Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
Shukla A et al.
European Journal of Medical Genetics, 2017
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC et al.
American Journal of Human Genetics, 2014
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