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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8641232
Species: Homo sapiens
RGD Object: Variant
Symbol: CV100216
Name: NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
Acc ID: DOID:0070199
Term: Miyoshi muscular dystrophy 1
Definition: A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO" "DO"
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)
CV100216 IAGP 8554872ClinVarClinVar Annotator: match by term: Miyoshi muscular dystrophy 1PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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