Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A3
Variant:p.L956P
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ATP13A3

NM_001367549.1:p.L956P

Associated Papers

ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.

Liu B et al.

Cardiovascular Research, 2024

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."