Associated Papers
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
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
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