Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.A1193Splc
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ABCA7

NM_019112.4:p.A1193Splc

Associated Papers

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

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.

Lacour M et al.

Journal of Alzheimer's Disease : Jad, 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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