Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion description "[Hyperekplexia is an autosomal dominant disorder caused by a point mutation in the alpha1 subunit of the glycine receptor, characterized by excessive startle responses followed by temporary generalized stiffness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion evidence source_evidence_literature NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion SIO_000772 9168167 NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion wasDerivedFrom befree-20140225 NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion wasGeneratedBy ECO_0000203 NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_provenance.