Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion type Assertion NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_head.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_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." NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_provenance.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion evidence source_evidence_literature NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_provenance.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion SIO_000772 23102684 NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_provenance.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion wasDerivedFrom befree-2016 NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_provenance.
- NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_assertion wasGeneratedBy ECO_0000203 NP1024091.RAtswAQQ3ZwyWX5sIj6DIB_qDNdWzPRwMSjMZMmTsP9Jc130_provenance.