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- source_evidence_literature type ECO_0000212 NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_assertion description "[The p.C796R and other ARVC-related PKP2 mutations indicate loss of function effects by intrinsic instability and calpain proteases mediated degradation in in vitro model systems, suggesting haploinsufficiency as the most likely cause for the genesis of dominant ARVC due to mutations in PKP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_assertion evidence source_evidence_literature NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_assertion SIO_000772 22781308 NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_assertion wasDerivedFrom befree-2016 NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_assertion wasGeneratedBy ECO_0000203 NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.
- befree-2016 importedOn "2016-02-19" NP996464.RAIs1rk0irzqy6sEFmQr6lny-em-_rrGbqmfEOlPTchKY130_provenance.