Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.P24insFs
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PURA

NM_005859.5:p.P24insFs

Associated Papers

Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.

Lee S et al.

Journal of Clinical Neurology (seoul, Korea), 2024

Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Kim SH et al.

The Journal of Molecular Diagnostics : Jmd, 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."