Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion type Assertion NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_head.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion description "[Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_provenance.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion evidence source_evidence_literature NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_provenance.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion SIO_000772 9546354 NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_provenance.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion wasDerivedFrom befree-2016 NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_provenance.
- NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_assertion wasGeneratedBy ECO_0000203 NP1393158.RAS6Km4Ae7EyXTQM8M92vIzKE15xlbFjSxODHQx-kJ5tQ130_provenance.