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- source_evidence_literature type ECO_0000212 NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_assertion description "[The present study is the first to report mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_assertion evidence source_evidence_literature NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_assertion SIO_000772 17967976 NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_assertion wasDerivedFrom befree-2016 NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_assertion wasGeneratedBy ECO_0000203 NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.
- befree-2016 importedOn "2016-02-19" NP637583.RALFGyRvXv344fvlezLSttbmrWdbq-86Jt_sZLQiWeFuY130_provenance.