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GENE - TERM ANNOTATION REPORT

RGD ID: 12082012
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: KBTBD13
Name: kelch repeat and BTB domain containing 13
Acc ID: DOID:0110935
Term: nemaline myopathy 6
Definition: A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21109227 "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.
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