Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion> ?p ?o ?g. }
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- NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_assertion type Assertion NP299726.RADKWfuHZfUkp0Sm0sphLNDZtLVmoLUInxTrmkMvdZywY130_head.
- 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.