Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.G45fs
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SMPX

NM_014332.3:p.G45fs

Associated Papers

A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.

Guo Y et al.

Translational Pediatrics, 2021

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2018

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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."