Varaico: Literature-Extracted Genetic Variants

Gene:DMPK
Variant:p.E463_A464insFs
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DMPK

NM_004409.5:p.E463_A464insFs

Associated Papers

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Meng YX et al.

Neurological Research, 2016

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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."