Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.S85S
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CHCHD2

NM_016139.4:p.S85S

Associated Papers

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.

Sun Y et al.

Journal of Neurology, 2019

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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."