Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.R1413R
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ABCA7

NM_019112.4:p.R1413R

Associated Papers

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A

Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Dong L et al.

Journal of Alzheimer's Disease : Jad, 2022

34958020 (PubMed )
Supplement: jad-85-jad215067-s001.pdf

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_004_N

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

De Roeck A et al.

Acta Neuropathologica, 2017

28447221 (PubMed )
Supplement: 401_2017_1714_MOESM1_ESM.pdf
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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."