Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Y146insFs
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CLCN1

NM_000083.3:p.Y146insFs

Associated Papers

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

Manning LK et al.

Animals : an Open Access Journal From Mdpi, 2024

39765607 (PubMed )
Supplement: animals-14-03703-s001.zip › Supplementary_Tables_and_Figures.xlsx › Table_S4

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog.

Chimenes ND et al.

Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2023

Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene.

Rodrigues DJ et al.

Neuromuscular Disorders : Nmd, 2020

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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."