Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.H87H
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PSEN2

NM_000447.3:p.H87H

Associated Papers

Epigenomic alterations and neural development anomalies in induced pluripotent stem cells from sporadic Alzheimer's disease.

Katbe A et al.

Development (cambridge, England), 2026

41293951 (PubMed )
Supplement: dev204910supp.pdf

Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.

Hamadi A et al.

Plos One, 2025

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.

Aguayo-Gómez A et al.

Plos One, 2024

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Xiao X et al.

Cns Neuroscience & Therapeutics, 2023

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_001
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