Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.W1821*
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SORL1

NM_003105.6:p.W1821*

Associated Papers

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

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

Brain Transcriptome Analysis of a Protein-Truncating Mutation in Sortilin-Related Receptor 1 Associated With Early-Onset Familial Alzheimer's Disease Indicates Early Effects on Mitochondrial and Ribosome Function.

Barthelson K et al.

Journal of Alzheimer's Disease : Jad, 2021

Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease.

Barthelson K et al.

Journal of Alzheimer's Disease Reports, 2020

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."