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Med.", "date": "2008", "authors": "Han Joan C, Liu Qing-Rong, Jones MaryPat, Levinn Rebecca L, Menzie Carolyn M, Jefferson-George Kyra S, Adler-Wailes Diane C, Sanford Ethan L, Lacbawan Felicitas L, Uhl George R, Rennert Owen M, Yanovski Jack A", "reference": { "type": "PubMed", "id": "18753648", "url": "https://pubmed.ncbi.nlm.nih.gov/18753648" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23560-1", "protein_name": "Neurotrophic factor BDNF precursor form", "gene_name": "BDNF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23560", "url": "https://www.uniprot.org/uniprotkb/P23560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18753648", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Transl. Med.", "date": "2016", "authors": "Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M", "reference": { "type": "PubMed", "id": "27510903", "url": "https://pubmed.ncbi.nlm.nih.gov/27510903" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96HR8-1", "protein_name": "H/ACA ribonucleoprotein complex non-core subunit NAF1", "gene_name": "NAF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3UMQ8-1", "protein_name": "H/ACA ribonucleoprotein complex non-core subunit NAF1", "gene_name": "Naf1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96HR8", "url": "https://www.uniprot.org/uniprotkb/Q96HR8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27510903", "abstract": "", "glycosylation": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.", "journal": "Blood", "date": "2011", "authors": "Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM", "reference": { "type": "PubMed", "id": "21670465", "url": "https://pubmed.ncbi.nlm.nih.gov/21670465" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23769-1", "protein_name": "Endothelial transcription factor GATA-2", "gene_name": "GATA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).", "journal": "Nature genetics", "date": "2011", "authors": "Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S", "reference": { "type": "PubMed", "id": "21892158", "url": "https://pubmed.ncbi.nlm.nih.gov/21892158" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23769-1", "protein_name": "Endothelial transcription factor GATA-2", "gene_name": "GATA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23769", "url": "https://www.uniprot.org/uniprotkb/P23769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21892158", "abstract": 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Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS", "reference": { "type": "PubMed", "id": "21892162", "url": "https://pubmed.ncbi.nlm.nih.gov/21892162" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23769-1", "protein_name": "Endothelial transcription factor GATA-2", "gene_name": "GATA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23769", "url": "https://www.uniprot.org/uniprotkb/P23769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21892162", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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