Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B4
Variant:p.G395S
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ATP8B4

NM_024837.4:p.G395S

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2

The impact of rare genetic variants on Alzheimer disease.

De Deyn L et al.

Nature Reviews. Neurology, 2025

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Akcesme B et al.

Neurogenetics, 2024

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Nicolas G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Lessons from genetic studies in Alzheimer disease.

Nicolas G

Revue Neurologique, 2024

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Holstege H et al.

Nature Genetics, 2022

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307

Input of exome sequencing in early-onset cerebral amyloid angiopathy.

Grangeon L et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 0

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