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GENE - TERM ANNOTATION REPORT

RGD ID: 3359
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pmp22
Name: peripheral myelin protein 22
Acc ID: DOID:0110178
Term: Charcot-Marie-Tooth disease axonal type 2V
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25818867 "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)
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