Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion> ?p ?o ?g. }
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- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion type Assertion NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_head.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion description "[In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion evidence source_evidence_literature NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion SIO_000772 10733662 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion wasDerivedFrom befree-2016 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.
- NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion wasGeneratedBy ECO_0000203 NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance.