Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.P190delins
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CIC

NM_001386298.1:p.P190delins

Associated Papers

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.

Özgün N et al.

The Turkish Journal of Pediatrics, 2020

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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."