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aprataxin
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Summary
General Info
Body Atlas
Most Correlated Tissues
Peritoneum
Basophil of peripheral blood
Kidney cortex
Kidney medulla
Thalamus lateral nuclei
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Disease Atlas
Most Correlated Diseases
Hypoproteinemia
Cerebellar ataxia
Rhinitis
Varicella-zoster virus infection
Deficiency in enzyme complexes of mitochondrial respiratory chain
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acetorphan
Streptomycin
Idoxuridine
Methotrimeprazine
Moxalactam
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Most Correlated Gene Perturbations
MIR135B
SLX1B
SIRT6
CSDE1
TRNL1
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Literature
Most Relevant Literature
XRCC1 phosphorylation affects aprataxin recruitment and DNA deadenylation activity.
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidati…
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case r…
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, a…
The DNA repair enzyme, aprataxin, plays a role in innate immune signaling.
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There were no clinical trials for aprataxin
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