Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.P7T
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SMPX

NM_014332.3:p.P7T

Associated Papers

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Johari M et al.

Acta Neuropathologica, 2021

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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."