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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
scientific article published on 12 March 2018
Author/s
author: Daniele Ghezzi, Andrea Legati, Eleonora Lamantea, Daria Diodato, Valentina Imperatore, Anna Maria Pinto, Enrico Bertini, Massimo Zeviani
Work details
Publication date
March 12, 2018
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Language
English
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