Varaico: Literature-Extracted Genetic Variants

Gene:YWHAG
Variant:p.R57G
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YWHAG

NM_012479.4:p.R57G

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 Personalized 14-3-3 Disease-Targeting Workflow Yields Repositioning Drug Candidates.

Larasati YA et al.

Cells, 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

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

Cetica V et al.

Epilepsia, 2024

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.

Yi Z et al.

Bmc Medical Genomics, 2022

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Zhao X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.

Sedláčková L et al.

American Journal of Medical Genetics. Part A, 2021

Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.

Stern T et al.

American Journal of Medical Genetics. Part A, 2021

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

Ye XG et al.

Frontiers in Genetics, 2021

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Kanani F et al.

American Journal of Medical Genetics. Part A, 2020

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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."