[ { "title": "SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.", "journal": "American journal of medical genetics", "date": "2001", "authors": "Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M", "reference": { "type": "PubMed", "id": "11471164", "url": "https://pubmed.ncbi.nlm.nih.gov/11471164" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15465-1", "protein_name": "Sonic hedgehog protein", "gene_name": "SHH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15465", "url": "https://www.uniprot.org/uniprotkb/Q15465" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104894049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894049" }, { "id": "rs104894049", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894049" }, { "id": "11471164", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11471164" }, { "id": "15103725", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15103725" } ], "glycoeffect": [], "start_pos": 111, "end_pos": 111, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gag-related.", "chr_id": "7", "chr_pos": "155806527", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I111", "disease": [ { "disease_id": "DOID:0111380", "recommended_name": { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "solitary median maxillary central incisor", "description": "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3." }, "synonyms": [ { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "SMMCI", "description": "" }, { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "fused incisors", "description": "" }, { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "single central maxillary incisor", "description": "" }, { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "single median maxillary central incisor", "description": "" }, { "id": "DOID:0111380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111380", "name": "single upper central incisor", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "solitary median maxillary central incisor syndrome", "description": "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "SMMCI", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "single median maxillary central incisor", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "single upper central incisor", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "solitary median maxillary central incisor syndrome", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "incisors fused", "description": "" }, { "id": "MONDO:0007819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007819", "name": "solitary MEDIAN maxillary central incisor", "description": "" }, { "id": "MIM:147250", "resource": "MIM", "url": "https://www.omim.org/entry/147250", "name": "Solitary median maxillary central incisor", "description": "Solitary median maxillary central incisor" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111380" }, { "id": "0111380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q15465-1" } ], "record_id": "pubmed.11471164", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.", "journal": "Human genetics", "date": "2001", "authors": "Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M", "reference": { "type": "PubMed", "id": "11479728", "url": "https://pubmed.ncbi.nlm.nih.gov/11479728" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15465-1", "protein_name": "Sonic hedgehog protein", "gene_name": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.", "journal": "Archives of disease in childhood", "date": "2002-04", "authors": "Heussler H S, Suri M, Young I D, Muenke M", "reference": { "type": "PubMed", "id": "11919111", "url": "https://pubmed.ncbi.nlm.nih.gov/11919111" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15465-1", "protein_name": "Sonic hedgehog protein", "gene_name": "SHH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15465", "url": "https://www.uniprot.org/uniprotkb/Q15465" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104894050", "database": "dbSNP", "url": 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}, "synonyms": [ { "id": "DOID:0110875", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110875", "name": "HLP3", "description": "" }, { "id": "DOID:0110875", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110875", "name": "HPE3", "description": "" }, { "id": "MONDO:0007733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007733", "name": "holoprosencephaly 3", "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." }, { "id": "MONDO:0007733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007733", "name": "HLP3", "description": "" }, { "id": "MONDO:0007733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007733", "name": "HPE3", "description": "" }, { "id": "MONDO:0007733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007733", "name": "SHH holoprosencephaly", 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Med. Genet.", "date": "2008", "authors": "Sun M, Ma F, Zeng X, Liu Q, Zhao X-L, Wu F-X, Wu G-P, Zhang Z-F, Gu B, Zhao Y-F, Tian S-H, Lin B, Kong X-Y, Zhang X-L, Yang W, Lo W H-Y, Zhang X", "reference": { "type": "PubMed", "id": "18417549", "url": "https://pubmed.ncbi.nlm.nih.gov/18417549" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15465-1", "protein_name": "Sonic hedgehog protein", "gene_name": "SHH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WVP7-1", "protein_name": "Limb region 1 protein homolog", "gene_name": "LMBR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15465", "url": "https://www.uniprot.org/uniprotkb/Q15465" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18417549", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutational analysis of SHH and GLI3 in anorectal malformations.", "journal": "Birth defects research. 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Growth hormone deficiencies may also be present. 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"count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": 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(jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004-08-10", "authors": "Rohozinski Jan, Bishop Colin E", "reference": { "type": "PubMed", "id": "15289605", "url": "https://pubmed.ncbi.nlm.nih.gov/15289605" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5TAP6-1", "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog C", "gene_name": "UTP14C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6EJB6-1", "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog B", "gene_name": "Utp14b", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q640M1-1", "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog A", "gene_name": "Utp14a", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9BVJ6-1", "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog A", "gene_name": "UTP14A", 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"title": "Structural basis of SNT PTB domain interactions with distinct neurotrophic receptors.", "journal": "Mol. Cell", "date": "2000", "authors": "Dhalluin C, Yan K S, Plotnikova O, Lee K W, Zeng L, Kuti M, Mujtaba S, Goldfarb M P, Zhou M M", "reference": { "type": "PubMed", "id": "11090629", "url": "https://pubmed.ncbi.nlm.nih.gov/11090629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WU20-1", "protein_name": "Fibroblast growth factor receptor substrate 2", "gene_name": "FRS2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WU20", "url": "https://www.uniprot.org/uniprotkb/Q8WU20" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11090629", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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J. Biochem.", "date": "1995", "authors": "Gieselmann R, Kwiatkowski DJ, Janmey PA, Witke W", "reference": { "type": "PubMed", "id": "7758455", "url": "https://pubmed.ncbi.nlm.nih.gov/7758455" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35080-1", "protein_name": "Profilin-2", "gene_name": "PFN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07737-1", "protein_name": "Profilin-1", "gene_name": "PFN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35080", "url": "https://www.uniprot.org/uniprotkb/P35080" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7758455", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ 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Int.", "date": "1992", "authors": "Sudo K, Maekawa M, Shioya M, Ikeda K, Takahashi N, Isogai Y, Li S S, Kanno T, Machida K, Toriumi J", "reference": { "type": "PubMed", "id": "1445373", "url": "https://pubmed.ncbi.nlm.nih.gov/1445373" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00338-1", "protein_name": "L-lactate dehydrogenase A chain", "gene_name": "LDHA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprotkb/P00338" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1445373", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining.", "journal": "Biochem. 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Commun.", "date": "1991", "authors": "Maekawa M, Sudo K, Li S S, Kanno T", "reference": { "type": "PubMed", "id": "1953713", "url": "https://pubmed.ncbi.nlm.nih.gov/1953713" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00338-1", "protein_name": "L-lactate dehydrogenase A chain", "gene_name": "LDHA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00338", "url": "https://www.uniprot.org/uniprotkb/P00338" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1953713", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification.", "journal": "Hum. 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