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- source_evidence_literature type ECO_0000212 NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_assertion description "[Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_assertion evidence source_evidence_literature NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_assertion SIO_000772 22781091 NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_assertion wasDerivedFrom befree-20140225 NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_assertion wasGeneratedBy ECO_0000203 NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP815299.RAqVkSo4j_-BtYx1wo3ttq5arHqllrOlW9rEOjPZ5hNdM130_provenance.