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GENE - TERM ANNOTATION REPORT

RGD ID: 1557767
Species: Mus musculus
RGD Object: Gene
Symbol: Myo7b
Name: myosin VIIB
Acc ID: DOID:0111220
Term: centronuclear myopathy 2
Definition: An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17676042 "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)
Myo7b ISOMYO7B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, centronuclear, 2PMID:28492532
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