Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP244292.RA8v7ddcbgzEqmCTcvHP75PwDzU3BLJBVAyNnBIfCM5T8#assertion> ?p ?o ?g. }
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- assertion description "[The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23508780 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.