Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.K467_F468Splc
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CLCN1

NM_000083.3:p.K467_F468Splc

Associated Papers

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Brenes O et al.

Cells, 2021

33670307 (PubMed )
Supplement: cells-10-00374-s001.pdf

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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