Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion> ?p ?o ?g. }
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- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion type Assertion NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_head.
- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion description "[Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associated weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_provenance.
- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion evidence source_evidence_literature NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_provenance.
- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion SIO_000772 23329375 NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_provenance.
- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion wasDerivedFrom befree-2016 NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_provenance.
- NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_assertion wasGeneratedBy ECO_0000203 NP1044830.RAs4U-SxL_CkFr6InbY4stZEZLii79zxZec-j9je40uSk130_provenance.