Varaico: Literature-Extracted Genetic Variants

Gene:EEF2
Variant:p.H769Y
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EEF2

NM_001961.4:p.H769Y

Associated Papers

EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.

Prasun P et al.

Molecular Syndromology, 2024

Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.

Ramirez CA et al.

Blood Advances, 2024

38713894 (PubMed )
Supplement: BLOODA_ADV-2022-007792-mmc6.xlsx › Supp_Table6

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 novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Rodríguez-García ME et al.

Journal of Human Genetics, 2023

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.

Nabais Sá MJ et al.

Human Molecular 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."