Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.N19D
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SMPX

NM_014332.3:p.N19D

Associated Papers

Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.

Li Z et al.

Acta Neuropathologica, 2024

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene.

Arifuzzaman M et al.

Annals of Human Genetics, 2020

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

Deng Y et al.

Journal of Human Genetics, 2018

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Niu Z et al.

Plos One, 2017

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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."