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Background
Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX‐ANO10).
Methods
Following the MDSGene protocol, we systematically investigated genotype–phenotype relationships in ATX‐ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.
Results
Most patients (>80%) had loss‐of‐function (LOF) variants. The...