Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.G194E
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PURA

NM_005859.5:p.G194E

Associated Papers

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

Yang H et al.

Gene, 2026

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.

Mroczek M et al.

Neuropediatrics, 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."