Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.D156V
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TYMP

NM_001953.5:p.D156V

Associated Papers

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

Helbling D et al.

Journal of Pediatric Gastroenterology and Nutrition, 2013

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G et al.

Neurology, 2004

Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.

Copeland WC et al.

Acta Biochimica Polonica, 2003

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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."