Varaico: Literature-Extracted Genetic Variants

Gene:YWHAG
Variant:p.R42*
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YWHAG

NM_012479.4:p.R42*

Associated Papers

The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.

Tan Q et al.

Developmental Medicine and Child Neurology, 2025

A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure.

Jin Y et al.

Molecular Genetics & Genomic Medicine, 2025

Role of the YWHAG gene mutations in Developmental and Epileptic Encephalopathy.

Vilmont V et al.

Frontiers in Neuroscience, 2025

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

Amato ME et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Cetica V et al.

Epilepsia, 2024

YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism.

Ye XG et al.

Frontiers in 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."