Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.Q123*
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PURA

NM_005859.5:p.Q123*

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

Neonatal PURA syndrome: a case report and literature review.

Liu Y et al.

Translational Pediatrics, 2021

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH et al.

American Journal of Medical Genetics. Part A, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."