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GENE - TERM ANNOTATION REPORT

RGD ID: 620456
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmna
Name: lamin A/C
Acc ID: DOID:0110276
Term: autosomal recessive limb-girdle muscular dystrophy type 2B
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9731527 "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)
Lmna ISOLMNA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2BPMID:18585512 PMID:18926329 PMID:25741868 PMID:28492532 PMID:31263448
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