Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.G52delFs
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PURA

NM_005859.5:p.G52delFs

Associated Papers

Neonatal PURA syndrome: a case report and literature review.

Liu Y et al.

Translational Pediatrics, 2021

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF et al.

Journal of Medical Genetics, 2018

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."