Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.W1336*
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ABCA7

NM_019112.4:p.W1336*

Associated Papers

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.

Duchateau L et al.

Alzheimer's Research & Therapy, 2023

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

Qian XH et al.

Molecular Neurobiology, 2023

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.

Bossaerts L et al.

Molecular Neurodegeneration, 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

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

De Roeck A et al.

Acta Neuropathologica, 2017

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.

Cuyvers E et al.

The Lancet. Neurology, 2015

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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."