Associated Papers
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Gouiza I et al.
Frontiers in Genetics, 2023
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
Fukumura S et al.
Journal of Human Genetics, 2015
Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar TJ et al.
Science Translational Medicine, 2012
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