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"count": 0 } ], "sort_fields": [] } ] }, { "title": "A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.", "journal": "Nature genetics", "date": "2007", "authors": "Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ", "reference": { "type": "PubMed", "id": "17334363", "url": "https://pubmed.ncbi.nlm.nih.gov/17334363" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q93074-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 12", "gene_name": "MED12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17334363", "abstract": "", "glycosylation": [], "mutagenesis": 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