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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TWNK

Variant:p.I253M

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TWNK

NM_021830.5:p.I253M

hg38:chr10:100988969 T>G

Associated Papers

TWNK gene pathogenic variant and Perrault syndrome.

Li H et al.

Gene, 2025

40669787 (PubMed )

Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.

Shimanuki MN et al.

Auris, Nasus, Larynx, 2024

39340975 (PubMed )

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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."