Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A2
Variant:p.R96C
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EEF1A2

NM_001958.5:p.R96C

Associated Papers

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Paulet A et al.

European Journal of Human Genetics : Ejhg, 2024

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

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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."