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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.", "journal": "European journal of human genetics : EJHG", "date": "2023-08", "authors": "Bouassida Malek, Egloff Matthieu, Levy Jonathan, Chatron Nicolas, Bernardini Laura, Le Guyader Gwena\u00ebl, Tabet Anne-Claude, Schluth-Bolard Caroline, Brancati Francesco, Giuffrida Maria Grazia, Dard Rodolphe, Clorennec Juliette, Coursimault Juliette, Vialard Fran\u00e7ois, Herv\u00e9 B\u00e9r\u00e9nice", "reference": { "type": "PubMed", "id": "37188826", "url": "https://pubmed.ncbi.nlm.nih.gov/37188826" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UL68-1", "protein_name": "Myelin transcription factor 1-like protein", "gene_name": "MYT1L", "tax_name": "Human" } ], "species": [ { 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[] } ] }, { "title": "Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.", "journal": "The New England journal of medicine", "date": "2003", "authors": "Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP", "reference": { "type": "PubMed", "id": "12606733", "url": "https://pubmed.ncbi.nlm.nih.gov/12606733" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UIF7-1", "protein_name": "Adenine DNA glycosylase", "gene_name": "MUTYH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIF7", "url": "https://www.uniprot.org/uniprotkb/Q9UIF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12606733", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Laranjeira F, Pires A, Leite J, Regateiro F, Castro e Sousa F, Soares J, Castro C, Giria J, Brito MJ, Medeira A, Teixeira R, Morna H, Gaspar I, Marinho C, Jorge R, Brehm A, Ramos JS, Boavida MG", "reference": { "type": "PubMed", "id": "15366000", "url": "https://pubmed.ncbi.nlm.nih.gov/15366000" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UIF7-1", "protein_name": "Adenine DNA glycosylase", "gene_name": "MUTYH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIF7", "url": "https://www.uniprot.org/uniprotkb/Q9UIF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15366000", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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cancer", "date": "2006", "authors": "Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W", "reference": { "type": "PubMed", "id": "16557584", "url": "https://pubmed.ncbi.nlm.nih.gov/16557584" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UIF7-1", "protein_name": "Adenine DNA glycosylase", "gene_name": "MUTYH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIF7", "url": "https://www.uniprot.org/uniprotkb/Q9UIF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16557584", "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", 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2007", "authors": "Cattaneo F, Molatore S, Mihalatos M, Apessos A, Venesio T, Bione S, Grignani P, Nasioulas G, Ranzani GN", "reference": { "type": "PubMed", "id": "18091433", "url": "https://pubmed.ncbi.nlm.nih.gov/18091433" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UIF7-1", "protein_name": "Adenine DNA glycosylase", "gene_name": "MUTYH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIF7", "url": "https://www.uniprot.org/uniprotkb/Q9UIF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18091433", 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lesser curve of stomach", "malignant tumour of stomach", "malignant tumour of the stomach", "Ca body - stomach", "ca greater curvature of stomach", "malignant neoplasm of body of stomach", "Gastric cancer" ], "id_list": [ "DOID:10534", "MONDO:0001056", "MIM:613659" ] } } ], "record_id": "pubmed.18986759", "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": 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human MAP-2c on tyrosine 67.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Zamora-Leon SP, Bresnick A, Backer JM, Shafit-Zagardo B", "reference": { "type": "PubMed", "id": "15536091", "url": "https://pubmed.ncbi.nlm.nih.gov/15536091" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11137-1", "protein_name": "Microtubule-associated protein 2", "gene_name": "MAP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11137", "url": "https://www.uniprot.org/uniprotkb/P11137" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", 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Res.", "date": "1989", "authors": "Dammerman M, Yen S H, Shafit-Zagardo B", "reference": { "type": "PubMed", "id": "2481044", "url": "https://pubmed.ncbi.nlm.nih.gov/2481044" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11137-1", "protein_name": "Microtubule-associated protein 2", "gene_name": "MAP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11137", "url": "https://www.uniprot.org/uniprotkb/P11137" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2481044", "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": "Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.", "journal": "Am. 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cell biology", "date": "1994", "authors": "Berling B, Wille H, Roll B, Mandelkow EM, Garner C, Mandelkow E", "reference": { "type": "PubMed", "id": "7525290", "url": "https://pubmed.ncbi.nlm.nih.gov/7525290" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11137-1", "protein_name": "Microtubule-associated protein 2", "gene_name": "MAP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11137", "url": "https://www.uniprot.org/uniprotkb/P11137" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 136, "end_pos": 136, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11137", "url": "https://www.uniprot.org/uniprotkb/P11137" }, { "database": "iPTMnet", "id": "P11137", "url": 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