Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.P566S
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CLCN2

NM_004366.6:p.P566S

Associated Papers

Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.

Bao J et al.

Biomedicines, 2025

40427062 (PubMed )
Supplement: biomedicines-13-01235-s001.zip › Supplement_Table_S8.xlsx › PART4

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.s021.xlsx › Prioritized_variants_from_exome
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