Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A467P
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POLG

NM_002693.3:p.A467P

Associated Papers

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat O et al.

Journal of Inherited Metabolic Disease, 2020

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Hikmat O et al.

Epilepsia, 2018

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."