RGD Annotation Report for mitochondrial DNA depletion syndrome 8ARat Genome Database

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An association has been curated linking CV303716 and mitochondrial DNA depletion syndrome 8A in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8A (DOID:0080127)
0 papers in RGD have been used to annotate CV303716
Curation Notes: ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.