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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

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Description scientific article published on 30 March 2017
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author: Stephanie L. Bielas  Malavika Hebbar  Anju Shukla  Katta Mohan Girisha  Priyanka Upadhyai 

Publication date March 30, 2017
Language English
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