Research Article
A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss
Figure 6
Variants of WFS1. (a) The position of WFS1 c.2530G > T (p.Ala844Ser) highlighted with a red arrow. The gray region indicates the noncoding region; the blue arrows indicate the total number of variants reported in exons for WFS1-associated LFSNHL. (b) Overview of the reported WFS1-associated LFSNHL variants and their locations in the protein structure. The red dots indicate reported variants; the green dots indicate novel variant found in this study.
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