ATP13A3 and pulmonary arterial hypertension: Within PAH cases, Gräf et al. [24] identified three heterozygous frameshift variants, two stop gain, two splice region variants and four heterozygous likely pathogenic missense variants in ATP13A3. These variants were predicted to lead to loss of ATPase catalytic activity, and to destabilise the conformation of the catalytic domain; six variants were predicted to cause protein truncation, suggesting that loss of function of ATP13A3 contributes to PAH pathogenesis.