Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion> ?p ?o ?g. }
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- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion type Assertion NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_head.
- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion description "[To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_provenance.
- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion evidence source_evidence_literature NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_provenance.
- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion SIO_000772 17296897 NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_provenance.
- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion wasDerivedFrom befree-20140225 NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_provenance.
- NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_assertion wasGeneratedBy ECO_0000203 NP904145.RAwXGTueT9jT66KnRayr5su-dUsCMhiZc9dg4tqpb-rYw130_provenance.