Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.E90K
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PURA

NM_005859.5:p.E90K

Associated Papers

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Cuillerier A et al.

Clinical Genetics, 2026

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.

Xu J et al.

Bmc Medical Genomics, 2025

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."