Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion> ?p ?o ?g. }
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- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion type Assertion NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_head.
- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion description "[PTC mutations in both alleles generally cause the most severe, mutilating Hallopeau-Siemens (HS) variant of RDEB, whereas none of the PTC mutations resulted in severe phenotypes consistent with the HS subtype when coupled with p.Glu2857X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_provenance.
- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion evidence source_evidence_literature NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_provenance.
- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion SIO_000772 18440202 NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_provenance.
- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion wasDerivedFrom befree-20140225 NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_provenance.
- NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_assertion wasGeneratedBy ECO_0000203 NP253272.RAFc3PPL348hJFT0arxpoVjg8djRVfrXtZVeuOySaBIiE130_provenance.