Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.H389Splc
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CLCN1

NM_000083.3:p.H389Splc

Associated Papers

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

Modoni A et al.

Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."