Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.G528A
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CLCN1

NM_000083.3:p.G528A

Associated Papers

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Elaraby NM et al.

Molecular Biology Reports, 2024

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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."