Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E et al.
Frontiers in Cell and Developmental Biology, 2022
36393831 (PubMed )
Supplement: DataSheet1.docx
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
Select a paper to view details