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SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.", "journal": "Reproductive sciences (Thousand Oaks, Calif.)", "date": "2024-03-06", "authors": "Villarroel Camilo E, Zenteno Juan C, Barrag\u00e1n-Ar\u00e9valo Tania, Leal-Anaya Paula, P\u00e9rez-Mu\u00f1oz Estela, Fr\u00edas-Soria Christian L, L\u00f3pez-Corella Eduardo, Yokoyama Emiy", "reference": { "type": "PubMed", "id": "38448741", "url": "https://pubmed.ncbi.nlm.nih.gov/38448741" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JUK2-1", "protein_name": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1", "gene_name": "SOHLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JUK2", "url": "https://www.uniprot.org/uniprotkb/Q5JUK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38448741", 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Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB", "reference": { "type": "PubMed", "id": "10729115", "url": "https://pubmed.ncbi.nlm.nih.gov/10729115" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13515-1", "protein_name": "Phakinin", "gene_name": "BFSP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13515", "url": "https://www.uniprot.org/uniprotkb/Q13515" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10729115", "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": 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