Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A957V
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POLG

NM_002693.3:p.A957V

Associated Papers

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.

Shimura M et al.

Orphanet Journal of Rare Diseases, 2020

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Montassir H et al.

Brain & Development, 2015

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

Yamazaki T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2014

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S et al.

Journal of Medical Genetics, 2011

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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."