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- source_evidence_literature type ECO_0000212 NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_assertion description "[Using a heterologous expression system, we show that GPD1L associated with SCN5A and that the BrS- and SIDS-related mutations in GPD1L caused a loss of enzymatic function resulting in glycerol-3-phosphate PKC-dependent phosphorylation of SCN5A at serine 1503 (S1503) through a GPD1L-dependent pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_assertion evidence source_evidence_literature NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_assertion SIO_000772 19666841 NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_assertion wasDerivedFrom befree-2016 NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_assertion wasGeneratedBy ECO_0000203 NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.
- befree-2016 importedOn "2016-02-19" NP756420.RA4S0-yr2iGfuK4vOqQOjG5bWpE0C3uPxM7rvxGMAE35E130_provenance.