Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E291*
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CLCN1

NM_000083.3:p.E291*

Associated Papers

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.

Marinakis NM et al.

Muscle & Nerve, 2024

Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Nagano M et al.

Npj Precision Oncology, 2021

34158601 (PubMed )
Supplement: 41698_2021_201_MOESM2_ESM.xlsx › Supplementary_Table_1
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