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VARIANT - TERM ANNOTATION REPORT

RGD ID: 25316809
Species: Homo sapiens
RGD Object: Variant
Symbol: CV804833
Name: NM_000533.5(PLP1):c.709T>G (p.Phe237Val)
Acc ID: HP:0003269
Term: Sudanophilic leukodystrophy
Definition: null
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)
CV804833 IAGP 8554872ClinVarClinVar Annotator: match by term: Sudanophilic leukodystrophy

PMID:25491635 PMID:25741868 PMID:29451896
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