Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion type Assertion NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_head.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_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." NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_provenance.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion evidence source_evidence_literature NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_provenance.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion SIO_000772 7650604 NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_provenance.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion wasDerivedFrom befree-20150227 NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_provenance.
- NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_assertion wasGeneratedBy ECO_0000203 NP359097.RAqHx0nqg3XfRDHM72d_zFg_dvWwZm76nTVrByxqczgmQ130_provenance.