Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.H337R
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EIF2B5

NM_003907.3:p.H337R

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

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Benzoni C et al.

Journal of Neurology, 2023

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

Trimouille A et al.

Acta Neuropathologica Communications, 2020

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Rodríguez-Quiroga SA et al.

Genetics Research, 2015

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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."