Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.P299S
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PDSS2

NM_020381.4:p.P299S

Associated Papers

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J et al.

Cerebellum (london, England), 2024

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O et al.

European Journal of Neurology, 2016

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."