Varaico: Literature-Extracted Genetic Variants

Gene:DMPK
Variant:p.M421insFs
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DMPK

NM_004409.5:p.M421insFs

Associated Papers

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

Meng YX et al.

Neurological Research, 2016

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

Mazón MJ et al.

Neuromuscular Disorders : Nmd, 2012

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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."