Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A3
Variant:p.M850insFs
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ATP13A3

NM_001367549.1:p.M850insFs

Associated Papers

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

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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."