Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.I197R
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CLCN1

NM_000083.3:p.I197R

Associated Papers

ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.

Brenes O et al.

Biomedicines, 2023

37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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."