Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.W748C
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POLG

NM_002693.3:p.W748C

Associated Papers

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Rötig A et al.

Neurology. Genetics, 2024

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann J et al.

Journal of Medical Genetics, 2017

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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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."