Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion type Assertion NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_head.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion description "[This is the first pathogenic missense mutation reported in CDH3 and the second mutation found to underlie hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_provenance.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion evidence source_evidence_literature NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_provenance.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion SIO_000772 12445216 NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_provenance.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion wasDerivedFrom befree-20140225 NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_provenance.
- NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_assertion wasGeneratedBy ECO_0000203 NP310056.RAVk1OEtTpeR-4l3Aq2hcLRPWwbT4zeKLwksXqf7QLUqc130_provenance.