Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.G200A
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EIF2B2

NM_014239.4:p.G200A

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

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

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A et al.

Neurology, 2004

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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."