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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN1

Variant:p.E417_L418Splc

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CLCN1

NM_000083.3:p.E417_L418Splc

hg38:chr7:143332507 A>C

Associated Papers

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Morrow JM et al.

Neuromuscular Disorders : Nmd, 2013

23810313 (PubMed )

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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."