Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.R404Splc
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SORL1

NM_003105.6:p.R404Splc

Associated Papers

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

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

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

Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2020

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Le Guennec K et al.

Journal of Alzheimer's Disease : Jad, 2018

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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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."