Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.G11insFs
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PURA

NM_005859.5:p.G11insFs

Associated Papers

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

Qiao Y et al.

European Journal of Medical Genetics, 2019

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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."