Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.S423Y
Back to variants list

POLG2

NM_007215.4:p.S423Y

Associated Papers

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Borsche M et al.

Cerebellum (london, England), 2024

Human mitochondrial DNA replication machinery and disease.

Young MJ et al.

Current Opinion in Genetics & Development, 2016

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."