Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.Q59*
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PURA

NM_005859.5:p.Q59*

Associated Papers

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay.

Noda Y et al.

Clinical Case Reports, 2023

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

Johannesen KM et al.

Neurology. Genetics, 2021

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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."