Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E548K
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CLCN1

NM_000083.3:p.E548K

Associated Papers

ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.

Brenes O et al.

Biomedicines, 2023

37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1

Chloride Channel Mutations Leading to Congenital Myotonia.

Nik A et al.

Cureus, 2022

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K et al.

Brain : a Journal of Neurology, 2022

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E et al.

Plos One, 2015

26670335 (PubMed )
Supplement: pone.0144528.s005.xlsx › TableS3

The genomic landscapes of human breast and colorectal cancers.

Wood LD et al.

Science (new York, N.y.), 2007

17932254 (PubMed )
Supplement: 1145720s_tables.zip › 1145720tableS3.xls › Both

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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