Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.R172*
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EIF2B2

NM_014239.4:p.R172*

Associated Papers

Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report.

Escobar-Pacheco M et al.

Cureus, 2024

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB et al.

Nature Medicine, 2023

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

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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."