Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

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Authors: Sandrina P. Correia, Marco F. Moedas, Karin Naess, Helene Bruhn, Camilla Maffezzini, Javier Calvo‐Garrido, Nicole Lesko, Rolf Wibom, Florian A. Schober, Anders Jemt, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg

Journal title: Human Mutation

Journal number: 42/4

Journal publisher: John Wiley & Sons Inc.

Published year: 2021

Published pages: 378-384

DOI identifier: 10.1002/humu.24173

ISSN: 1059-7794