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- source_evidence_literature type ECO_0000212 NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_assertion description "[In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_assertion evidence source_evidence_literature NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_assertion SIO_000772 22926674 NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_assertion wasDerivedFrom befree-20150227 NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_assertion wasGeneratedBy ECO_0000203 NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP682862.RAeDLZi5yulST-5rkEDg1mFE38FoO5MtmAGOFu53vDYCM130_provenance.