Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion> ?p ?o ?g. }
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- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion type Assertion NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_head.
- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_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." NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_provenance.
- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion evidence source_evidence_literature NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_provenance.
- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion SIO_000772 7650604 NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_provenance.
- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion wasDerivedFrom befree-20150227 NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_provenance.
- NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_assertion wasGeneratedBy ECO_0000203 NP225742.RA5BlOn7q115INOFqSGSNScclgfNFuS8MFhGc29Nf83mk130_provenance.