Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.D499Y
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TWNK

NM_021830.5:p.D499Y

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

Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.

Dong H et al.

Frontiers in Neurology, 2019

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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."