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- source_evidence_literature type ECO_0000212 NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_assertion description "[These results indicate that the germline single base deletion of PTCH1 (c.2613 delC) is a first hit and the LOH of the wild-type allele is a second hit, implying that all 16 BCCs detected in these NBCCS sisters fit the standard two-hit model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_assertion evidence source_evidence_literature NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_assertion SIO_000772 24942795 NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_assertion wasDerivedFrom befree-2016 NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_assertion wasGeneratedBy ECO_0000203 NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1193567.RA3vRgA7EuoGZw9nPPW9EDjg_SdQaL8KoBQD46PKP5llM130_provenance.