Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.K273Q
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EIF2B2

NM_014239.4:p.K273Q

Associated Papers

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H et al.

Plos One, 2015

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks.

Unal O et al.

Journal of Child Neurology, 2013

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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."