Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.H962fs
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SORL1

NM_003105.6:p.H962fs

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

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

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 › SuppTable4

Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.

Van Der Lee SJ et al.

Neurology, 2025

Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network.

Hung C et al.

Cell Reports, 2021

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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