Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.R953H
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SORL1

NM_003105.6:p.R953H

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

41646738 (PubMed )
Supplement: media-6.xlsx › Supplementary_Table_5

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

Andersen OM et al.

Molecular Neurodegeneration, 2025

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.

Fazeli E et al.

Acta Neuropathologica, 2024

A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.

Fazeli E et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."