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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease

Catarina Olimpio,Ida Paramonov,Leslie Matalonga,Steven Laurie,Katherine Schon,Kiran Polavarapu,Janbernd Kirschner,Ulrike Schara-Schmidt,Hanns Lochmueller,Patrick F. Chinnery,Rita Horvath

JOURNAL OF NEUROMUSCULAR DISEASES（2024）

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关键词
Mitochondrial diseases,respiratory chain deficiencies,next generation sequencing,mitochondrial genes
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