A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping

Beenish Arif, Kishore R. Kumar, Philip Seibler, Franca Vulinovic, Amara Fatima, Susen Winkler, Gudrun Nürnberg, Holger Thiele, Peter Nürnberg, Ahmad Zeeshan Jamil, Anne Brüggemann, Ghazanfar Abbas, Christine Klein*, Sadaf Naz, Katja Lohmann

*Corresponding author for this work
14 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology