Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_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." NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_assertion evidence source_evidence_curated NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_assertion SIO_000772 9546354 NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_assertion wasDerivedFrom uniprot-2016 NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_assertion wasGeneratedBy ECO_0000218 NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9712.RAZwi9T4MuG6ESejg81rRKWb83QZ9CSnd9Mxy0N3--b68130_provenance.