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- source_evidence_literature type ECO_0000212 NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_assertion description "[Genetic advances include the use of the minigene assay to confirm pathogenicity of splice site mutations of CLC-1 chloride channels and a new gene association for Andersen-Tawil syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_assertion evidence source_evidence_literature NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_assertion SIO_000772 25188014 NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_assertion wasDerivedFrom befree-2016 NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_assertion wasGeneratedBy ECO_0000203 NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1216735.RA3kNQtu3KLagfpq7siAOY7UI8lCit4kObtxaRoaLu-k0130_provenance.