Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.S213Splc
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SMCHD1

NM_015295.3:p.S213Splc

Associated Papers

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.

Hamanaka K et al.

Neuromuscular Disorders : Nmd, 0

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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."