Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_assertion description "[Mutations in myotilin cause MFM; exon 2 of MYOT is a hotspot for mutations; peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; not all cases have a limb-girdle phenotype]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_assertion evidence source_evidence_literature NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_assertion SIO_000772 15111675 NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_assertion wasDerivedFrom lhgdn-20090331 NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_assertion wasGeneratedBy ECO_0000203 NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP207957.RADPh23f8U2Pg3QxTe1Fxqd6I71re_fIXbEN8QA0hRNnc130_provenance.