Varaico: Literature-Extracted Genetic Variants

Gene:MYMX
Variant:p.L36*
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MYMX

NM_001315494.2:p.L36*

Associated Papers

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Rahman F et al.

European Journal of Human Genetics : Ejhg, 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."