Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion> ?p ?o ?g. }
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- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion type Assertion NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_head.
- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion description "[We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_provenance.
- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion evidence source_evidence_literature NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_provenance.
- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion SIO_000772 16807713 NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_provenance.
- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion wasDerivedFrom befree-20150227 NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_provenance.
- NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_assertion wasGeneratedBy ECO_0000203 NP596418.RAfwt2Xs0veJ3eH3FEuDQF180wagqBgdjxAuBtQl9Mo1k130_provenance.