Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.K1472_I1473Splc
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ABCA7

NM_019112.4:p.K1472_I1473Splc

Associated Papers

ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.

von Maydell D et al.

Nature, 2025

ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain.

von Maydell D et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Duchateau L et al.

Alzheimer's Research & Therapy, 2023

37946268 (PubMed )
Supplement: 13195_2023_1338_MOESM1_ESM.xlsx › Additional_Table_5

Clinical Deep Phenotyping of ABCA7 Mutation Carriers.

Campbell AS et al.

Neurology. Genetics, 2022

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Bossaerts L et al.

Acta Neuropathologica Communications, 2022

35361255 (PubMed )
Supplement: 40478_2022_1346_MOESM1_ESM.docx

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

Genetic discoveries and advances in late-onset Alzheimer's disease.

Rezazadeh M et al.

Journal of Cellular Physiology, 2019

Genetic underpinnings in Alzheimer's disease - a review.

Moustafa AA et al.

Reviews in the Neurosciences, 2018

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

De Roeck A et al.

Acta Neuropathologica, 2017

ABCA7 loss-of-function variants, expression, and neurologic disease risk.

Allen M et al.

Neurology. Genetics, 2017

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2016

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

Nuytemans K et al.

Neurology. Genetics, 2016

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.

Del-Aguila JL et al.

Alzheimer's Research & Therapy, 2015

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Vardarajan BN et al.

Annals of Neurology, 2015

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

Cuyvers E et al.

The Lancet. Neurology, 2015

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.

Steinberg S et al.

Nature Genetics, 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."