Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.D386E
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POLG2

NM_007215.4:p.D386E

Associated Papers

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.

Valencia CA et al.

Plos One, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Young MJ et al.

Human Molecular Genetics, 2011

Defects in mitochondrial DNA replication and human disease.

Copeland WC

Critical Reviews in Biochemistry and Molecular Biology, 0

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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."