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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN1

Variant:p.K467_F468Splc

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CLCN1

NM_000083.3:p.K467_F468Splc

hg38:chr7:143339225 G>A

Associated Papers

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

28427807 (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."