Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A2
Variant:p.P333L
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EEF1A2

NM_001958.5:p.P333L

Associated Papers

Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2.

Davies FCJ et al.

Molecular and Cellular Neurosciences, 2023

On the Need to Tell Apart Fraternal Twins eEF1A1 and eEF1A2, and Their Respective Outfits.

Mills A et al.

International Journal of Molecular Sciences, 2021

Structural Cues for Understanding eEF1A2 Moonlighting.

Carriles AA et al.

Chembiochem : a European Journal of Chemical Biology, 2021

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Carvill GL et al.

Human Mutation, 2020

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish.

Idigo NJ et al.

Bioscience Reports, 2020

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

Kaur S et al.

Clinical Case Reports, 2019

The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.

McLachlan F et al.

Human Mutation, 2019

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Cao S et al.

Human Molecular 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."