Varaico: Literature-Extracted Genetic Variants

Gene:EIF2A
Variant:p.M1V
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EIF2A

NM_032025.5:p.M1V

Associated Papers

The cap-proximal RNA secondary structure inhibits preinitiation complex formation on HAC1 mRNA.

Uppala JK et al.

The Journal of Biological Chemistry, 2022

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Welters A et al.

Orphanet Journal of Rare Diseases, 2020

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE et al.

Neuron, 2016

Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Jiang Y et al.

Genome Biology, 2014

25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_13
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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."