Associated Papers
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W et al.
European Journal of Human Genetics : Ejhg, 2023
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2022
33981013 (PubMed )
Supplement: 41431_2021_903_MOESM2_ESM.xlsx › Ark1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM et al.
Neurology. Genetics, 2021
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