Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.E193_L194Splc
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ABCA7

NM_019112.4:p.E193_L194Splc

Associated Papers

ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer's Disease.

Qian XH et al.

Molecular Neurobiology, 2023

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

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

De Roeck A et al.

Acta Neuropathologica, 2019

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

De Roeck A et al.

Acta Neuropathologica, 2017

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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."