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GENE - TERM ANNOTATION REPORT

CRRD ID: 14285052
Species: Sus scrofa
CRRD Object: Gene
Symbol: NEFL
Name: neurofilament light
Acc ID: DOID:0110151
Term: Charcot-Marie-Tooth disease type 1C
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12525712
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC

PMID:12481988, PMID:15111691, PMID:16452125, PMID:25741868
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.