Molecular genetic approaches have evolved at an astonishing pace resulting in increasingly
routine use of whole exome sequencing in Mendelian disorder diagnosis.
Keywords
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Article info
Footnotes
This article originally appeared in Advances in Molecular Pathology, Volume 1, 2018.
Disclosure Statement: The authors have nothing to declare.
Funding: mitoNet German Network for Mitochondrial Diseases (01GM1113). GENOMIT European Network for Mitochondrial Disease (01GM1207). SOUND (Statistical Multi-Omics Understanding) EU Horizon2020 Collaborative Research Project (633974). PhD Program Medical Life Science and Technology scholarship (TUM School of Medicine).
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