Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.G1051W
Back to variants list

POLG

NM_002693.3:p.G1051W

Associated Papers

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Hussein Y et al.

Epilepsia Open, 2024

39509559 (PubMed )
Supplement: EPI4-9-2443-s002.docx

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
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."