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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
scientific article
Author/s
author: Patrick R Blackburn, Jennifer M Gass, Margot A Cousin, Nicole J Boczek, Paldeep S Atwal, Eric W Klee
Work details
Publication date
March 30, 2017
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Language
English
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