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GENE - TERM ANNOTATION REPORT

RGD ID: 14241673
Species: Sus scrofa
RGD Object: Gene
Symbol: STRN4
Name: striatin 4
Acc ID: DOID:0110299
Term: autosomal recessive limb-girdle muscular dystrophy type 2I
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11592034 "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)
STRN4 ISOSTRN4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2IPMID:25741868
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