Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.R268*
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SORL1

NM_003105.6:p.R268*

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

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Schramm C et al.

Genome Medicine, 2022

35761418 (PubMed )
Supplement: 13073_2022_1070_MOESM1_ESM.pdf

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

35000612 (PubMed )
Supplement: 13024_2021_505_MOESM1_ESM.docx

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

Nicolas G et al.

Molecular Psychiatry, 2016

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