Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.A189fs
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PURA

NM_005859.5:p.A189fs

Associated Papers

A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.

Yang H et al.

Gene, 2026

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."