Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.I328del1
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WFS1

NM_006005.3:p.I328del1

Associated Papers

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.

Ma J et al.

Biomed Research International, 2022

Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.

Batjargal K et al.

Journal of Endocrinological Investigation, 2020

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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."