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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11551334
Species: Homo sapiens
RGD Object: Variant
Symbol: CV257434
Name: NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)
Acc ID: DOID:0080632
Term: Fazio-Londe disease
Definition: A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK299312/ "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)
CV257434 IAGP 8554872ClinVarClinVar Annotator: match by term: Progressive bulbar palsy of childhoodPMID:24033266 PMID:25741868 PMID:28492532
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