Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.D1105H
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SORL1

NM_003105.6:p.D1105H

Associated Papers

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

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

Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

Castelot R et al.

Alzheimer's Research & Therapy, 2025

Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.

Fazeli E et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024

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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