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Paper Details

Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
J Med Genet
17
2022
ATP13A3, ATP13A3 gene, ATP13A3 variants, PAH, children, pulmonary arterial hypertension, risk alleles
Author NameAffiliation
Matthias HaimelUniversity of Cambridge
Matthias HaimelUniversity of Cambridge School of Clinical Medicine
Marta BledaUniversity of Cambridge School of Clinical Medicine
Jeffrey R FinemanDepartment of Pediatrics and Cardiovascular Research Institute, University of California San Francisco
Michael A HarrisVici Syndrome Foundation
Julie Hoover-FongJohns Hopkins University School of Medicine
Stefan Gr??fUniversity of Cambridge
Stefan Gr??fUniversity of Cambridge School of Clinical Medicine
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
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