Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.G2000R
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SORL1

NM_003105.6:p.G2000R

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

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Alvarez-Mora MI et al.

International Journal of Molecular Sciences, 2022

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

The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

Rossi D et al.

The Journal of Experimental Medicine, 2012

22891273 (PubMed )
Supplement: supp_jem.20120904_JEM_20120904_TableS3.xlsx › Table_IIIs
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