Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.N1809S
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SORL1

NM_003105.6:p.N1809S

Associated Papers

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.

Quan M et al.

Phenomics (cham, Switzerland), 2023

Novel Rare SORL1 Variants in Early-Onset Dementia.

Korpioja A et al.

Journal of Alzheimer's Disease : Jad, 2021

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.

Campion D et al.

Acta Neuropathologica, 2019

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

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

Verheijen J et al.

Acta Neuropathologica, 2016

27026413 (PubMed )
Supplement: 401_2016_1566_MOESM1_ESM.docx
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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."