Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.I197K
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CLCN1

NM_000083.3:p.I197K

Associated Papers

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.

Lucchiari S et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2013

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

Ulzi G et al.

Journal of the Neurological Sciences, 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."