Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R329*
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TWNK

NM_021830.5:p.R329*

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

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
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