Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R285Q
Back to variants list

TWNK

NM_021830.5:p.R285Q

Associated Papers

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

Gao X et al.

Human Genetics, 2025

Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.

Sukhudyan B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s004.xlsx › TableS3
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."