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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF1A2

Variant:p.A57_W58delFs

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EEF1A2

NM_001958.5:p.A57_W58delFs

hg38:chr20:63496007 CAG>C

Associated Papers

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.

Xiao T et al.

Frontiers in Molecular Neuroscience, 2022

35557555 (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."