Associated Papers
Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
Liu SN et al.
Orphanet Journal of Rare Diseases, 2025
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
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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