Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.S162C
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CLCN2

NM_004366.6:p.S162C

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

26741492 (PubMed )
Supplement: pgen.1005679.s001.docx
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