Varaico: Literature-Extracted Genetic Variants

Gene:EIF4A2
Variant:p.K382delFs
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EIF4A2

NM_001967.4:p.K382delFs

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

Harrer P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."