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GENE - TERM ANNOTATION REPORT

RGD ID: 1320792
Species: Mus musculus
RGD Object: Gene
Symbol: Fktn
Name: fukutin
Acc ID: DOID:0110284
Term: autosomal recessive limb-girdle muscular dystrophy type 2L
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20096397 "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)
Fktn ISOFKTN (Homo sapiens)11576328RGDDNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) 
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