Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion> ?p ?o ?g. }
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- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion type Assertion NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_head.
- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion description "[Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_provenance.
- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion evidence source_evidence_literature NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_provenance.
- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion SIO_000772 14580232 NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_provenance.
- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion wasDerivedFrom befree-2016 NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_provenance.
- NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_assertion wasGeneratedBy ECO_0000203 NP418342.RAwtNx3WwB1n1OdDMYZ4o9xCJsOpDtll4IaqtFSnBtmCg130_provenance.