Varaico: Literature-Extracted Genetic Variants

Gene:EEF2
Variant:p.A736V
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EEF2

NM_001961.4:p.A736V

Associated Papers

EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.

Prasun P et al.

Molecular Syndromology, 2024

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

Guo R et al.

American Journal of Medical Genetics. Part A, 2023

A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations.

Zhao H et al.

Cureus, 2022

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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."