Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.R299H
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EIF2B3

NM_020365.5:p.R299H

Associated Papers

Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.

Thuppanattumadam Ananthasubramanian S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.

Deng J et al.

Frontiers in Genetics, 2021

34745209 (PubMed )
Supplement: Table1.DOCX
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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."