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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF2

Variant:p.I12V

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EEF2

NM_001961.4:p.I12V

hg38:chr19:3984320 T>C

Associated Papers

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

37072624 (PubMed )

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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."