Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A2
Variant:p.P333S
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EEF1A2

NM_001958.5:p.P333S

Associated Papers

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."