Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.H269H
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SORL1

NM_003105.6:p.H269H

Associated Papers

Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Dong L et al.

Journal of Alzheimer's Disease : Jad, 2022

34958020 (PubMed )
Supplement: jad-85-jad215067-s001.pdf

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_004_N

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Genetic Study of Alzheimer's Disease in Saudi Population.

El Bitar F et al.

Journal of Alzheimer's Disease : Jad, 2019

30636737 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180415.docx

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

Holstege H et al.

European Journal of Human Genetics : Ejhg, 2017

28537274 (PubMed )
Supplement: ejhg201787x2.xlsx › Holstege_et_al_Table_S3

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population.

Bettens K et al.

Human Mutation, 2008

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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."