Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_assertion wasGeneratedBy ECO_0000203 NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_assertion wasDerivedFrom befree-20140225 NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_assertion SIO_000772 22876555 NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_assertion evidence source_evidence_literature NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_assertion description "[We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during somatostatin analog (octreotide) discontinuation developed by nonhypoglycemic seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP348647.RATsb7Wo0emZ4SvbEQ3j_ofJwSB7gHas5s94E_qzsx5Gk130_provenance.