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American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.Circulation|October 25, 2021
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart SyndromeMarkus Krane, Martina Dreßen, Gianluca Santamaria, et al.Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.Pageof 2