Varaico: Literature-Extracted Genetic Variants

Gene:YWHAG
Variant:p.D129E
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YWHAG

NM_012479.4:p.D129E

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

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

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

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

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I et al.

American Journal of Human Genetics, 2017

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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."