Associated Papers
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.
Xiao B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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
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