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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13486243
Species: Homo sapiens
RGD Object: Variant
Symbol: CV446115
Name: NM_000540.3(RYR1):c.9472+1G>A
Acc ID: DOID:422
Term: congenital structural myopathy
Definition: A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23897157/ "DO" "DO", MESH:D020914
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV446115 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital fiber-type disproportion myopathyPMID:16199547 PMID:23919265 PMID:25741868 PMID:25960145 PMID:28492532 PMID:28818389 PMID:30611313 PMID:34625927
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