Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.A127V
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EIF2B2

NM_014239.4:p.A127V

Associated Papers

IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.

Malvestiti F et al.

International Journal of Molecular Sciences, 2026

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.

Illés A et al.

Bmc Medical Genomics, 2024

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Spagnoli C et al.

Genes, 2021

34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S2.xlsx › Sheet1

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Sassi C et al.

Neurobiology of Aging, 2018

29544907 (PubMed )
Supplement: mmc3.xlsx › ST10

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Lopes F et al.

Journal of Medical Genetics, 2016

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
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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."