Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_assertion description "[Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_assertion evidence source_evidence_literature NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_assertion SIO_000772 23102684 NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_assertion wasDerivedFrom befree-20150227 NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_assertion wasGeneratedBy ECO_0000203 NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.
- befree-20150227 importedOn "2015-02-27" NP595520.RAsFvRd5hGAxmGbeGkZ_ZEO-ngcz6yHvqANb4FryyGY98130_provenance.