Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.R1080C
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SORL1

NM_003105.6:p.R1080C

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

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

de Waal MWJ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026

41685556 (PubMed )
Supplement: ALZ-22-e71042-s003.docx

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Xu Y et al.

Aging and Disease, 2018

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
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