Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.A50_G52insFs
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PURA

NM_005859.5:p.A50_G52insFs

Associated Papers

PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.

Taniguchi N et al.

Journal of Medical Genetics, 2025

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

Dai W et al.

European Journal of Human Genetics : Ejhg, 2023

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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."