Varaico: Literature-Extracted Genetic Variants

Gene:CLC
Variant:p.N105Y
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CLC

NM_001828.6:p.N105Y

Associated Papers

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D et al.

Brain : a Journal of Neurology, 2007

Involvement of helices at the dimer interface in ClC-1 common gating.

Duffield M et al.

The Journal of General Physiology, 2003

Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations.

Aromataris EC et al.

Molecular Pharmacology, 2001

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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."