Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion> ?p ?o ?g. }
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- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion type Assertion NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_head.
- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion description "[Furthermore, we show by functional analysis that disease severity correlates with PEX7 allele activity: expression of eight different alleles from patients with severe RCDP failed to restore the targeting defect in RCDP fibroblasts, whereas two alleles found only in patients with mild disease complemented the targeting defect upon overexpression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_provenance.
- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion evidence source_evidence_literature NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_provenance.
- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion SIO_000772 11781871 NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_provenance.
- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion wasDerivedFrom befree-20150227 NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_provenance.
- NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_assertion wasGeneratedBy ECO_0000203 NP616310.RAsf4ABbCbg5HWhiAR77qe8Innxw_CJlcIiKQx9J4Wh3s130_provenance.