Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

作者：Nicole Hammann, Dominic Lenz, Ivo Barić, Ellen Crushell, Carlo Dionisi‐Vici, Felix Distelmaier, François Feillet, Peter Freisinger, Maja Hempel, А. L. Khoreva, Martin W. Laaß, Yves Lacassie, Elke Lainka, Catherine Larson‐Nath, Zhong‐Die Li, Patryk Lipiński, Eberhard Lurz, André Mégarbané, 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 Kölker, Georg F. Hoffmann, Christian Staufner · 发表于：Molecular Genetics and Metabolism · 年份：2024 · DOI：10.1016/j.ymgme.2023.108118 · 被引用次数：6 · 研究领域：Genomics and Rare Diseases、Biochemical and Molecular Research、Genetics and Neurodevelopmental Disorders