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- source_evidence_literature type ECO_0000212 NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP328384.RACqOMTw9FI0UZAwg2frl-0EN9ywAucJ3PzlLGRFY17uo130_provenance.