Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.P716L
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EIF2AK3

NM_004836.7:p.P716L

Associated Papers

Ethnic variation and structure-function analysis of tauopathy-associated PERK alleles.

Park G et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.

Park G et al.

The Journal of Biological Chemistry, 2023

36563857 (PubMed )
Supplement: mmc2.xlsx › gnomAD_v2.1.1_ENSG00000172071_2

Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.

Yu MG et al.

The Journal of Clinical Investigation, 2019

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Wong TH et al.

Neurobiology of Aging, 2019

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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."