Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A3
Variant:p.R520*
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ATP13A3

NM_001367549.1:p.R520*

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

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

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM3_ESM.xlsx › Suppl._Dataset_3
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