Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion> ?p ?o ?g. }
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- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion type Assertion NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_head.
- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion description "[Mutations in the gene encoding the alpha 1-subunit of the skeletal muscle dihydropyridine (DHP) receptor are responsible for familial hypokalaemic periodic paralysis (HypoPP), an autosomal dominant muscle disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_provenance.
- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion evidence source_evidence_literature NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_provenance.
- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion SIO_000772 7650604 NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_provenance.
- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion wasDerivedFrom befree-2016 NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_provenance.
- NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_assertion wasGeneratedBy ECO_0000203 NP1316524.RAUtOUMBR1dCHRIO8-SlYD59rVECjUHwGmH5vN6qTNQEM130_provenance.