Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.L1403fs
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ABCA7

NM_019112.4:p.L1403fs

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

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

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."