Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.L269R
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EIF2B4

NM_001034116.2:p.L269R

Associated Papers

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A et al.

Human Mutation, 2005

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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."