Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S225R
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CLCN1

NM_000083.3:p.S225R

Associated Papers

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Wang X et al.

Italian Journal of Pediatrics, 2025

Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita.

Hilbert P et al.

Acta Neurologica Scandinavica, 2011

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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."