Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.P168P
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CLCN1

NM_000083.3:p.P168P

Associated Papers

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1.

Kino Y et al.

Nucleic Acids Research, 2009

Regulation of splicing by MBNL and CELF family of RNA-binding protein.

Ishiura S et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005

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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."