Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.R303W
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SORL1

NM_003105.6:p.R303W

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: NIHPP2026.01.24.26344530v2-supplement-9.pdf

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Blauwendraat C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28749476 (PubMed )
Supplement: gim2017102x4.xlsx › Supplementary_Material_S5

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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