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- source_evidence_literature type ECO_0000212 NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_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." NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_assertion evidence source_evidence_literature NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_assertion SIO_000772 23102684 NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_assertion wasDerivedFrom befree-20150227 NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_assertion wasGeneratedBy ECO_0000203 NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.
- befree-20150227 importedOn "2015-02-27" NP595613.RASqqOwOW1kvl7P5N890q1m1KMN-fXjCJsP4fBqNrmh2c130_provenance.