Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A3
Variant:p.R858H
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ATP13A3

NM_001367549.1:p.R858H

Associated Papers

Genomic landscape of endometrial polyps.

Reinikka S et al.

Genome Medicine, 2025

41137179 (PubMed )
Supplement: 13073_2025_1556_MOESM1_ESM.xlsx › S3

ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.

Liu B et al.

Cardiovascular Research, 2024

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Machado RD et al.

Journal of Medical Genetics, 2022

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.

Gelinas SM et al.

Genes, 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

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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."