Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.E44_G45Splc
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SMPX

NM_014332.3:p.E44_G45Splc

Associated Papers

[Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree].

Zhai Z et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2025

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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."