Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.C268Y
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EIF2B2

NM_014239.4:p.C268Y

Associated Papers

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Tucker EJ et al.

European Journal of Human Genetics : Ejhg, 2018

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

Alsalem A et al.

Gene, 2012

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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."