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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

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Description scientific article published on 12 March 2018
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author: Andrea Legati  Daria Diodato  Valentina Imperatore  Anna Maria Pinto  Eleonora Lamantea  Daniele Ghezzi  Enrico Bertini 

Publication date March 12, 2018
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