Impact of Genetic and Non-Genetic Factors on Phenotypic Diversity in NBAS-associated Disease
Nicole Hammann,Dominic Lenz,Ivo Baric,Ellen Crushell,Carlo Dionisi Vici,Felix Distelmaier,Francois Feillet,Peter Freisinger,Maja Hempel,Anna L. Khoreva,Martin W. Laass,Yves Lacassie,Elke Lainka,Catherine Larson-Nath,Zhongdie Li,Patryk Lipinski,Eberhard Lurz,Andre Megarbane,Susana Nobre,Giorgia Olivieri,Bianca Peters,Paolo Prontera,Lea D. Schlieben, Christine M. Seroogy,Cristina Sobacchi,Shigeru Suzuki,Christel Tran,Jerry Vockley,Jian-She Wang,Matias Wagner,Holger Prokisch,Sven F. Garbade,Stefan Kolker,Georg F. Hoffmann,Christian Staufner Molecular Genetics and Metabolism（2024）
Key words
NBAS,SOPH,ILFS2,Recurrent acute liver failure,Genotype-phenotype correlation
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