Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion type Assertion NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_head.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_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." NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion evidence source_evidence_literature NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion SIO_000772 23508780 NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion wasDerivedFrom befree-20150227 NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_assertion wasGeneratedBy ECO_0000203 NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.