Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A3
Variant:p.Q514*
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ATP13A3

NM_001367549.1:p.Q514*

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

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2022

Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients.

Lerche M et al.

Pulmonary Circulation, 0

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