Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion> ?p ?o ?g. }
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- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion type Assertion NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_head.
- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion description "[The Ala4894Thr RyR1 variant was found in a Japanese patient with susceptibility to MH, and the Ala4894Pro variant in a rare case of myopathy: congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_provenance.
- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion evidence source_evidence_literature NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_provenance.
- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion SIO_000772 21926372 NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_provenance.
- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion wasDerivedFrom befree-20140225 NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_provenance.
- NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_assertion wasGeneratedBy ECO_0000203 NP570967.RA6bc6HHpLRVYlLUfJZw-YWNFdYFd4PW7Bxxl7DEon3V0130_provenance.