Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.S9_G11insFs
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CPOX

NM_000097.7:p.S9_G11insFs

Associated Papers

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

Paprad T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."