Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.T550T
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CLCN1

NM_000083.3:p.T550T

Associated Papers

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

Thor MG et al.

Scientific Reports, 2019

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Morales F et al.

Frontiers in Neurology, 2019

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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."