GeneticsJournal of Human GeneticsPeer-reviewed
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava…·Katta M. Girisha
This study identifies a homozygous ISCA1 variant causing a new type of multiple mitochondrial dysfunctions syndrome with similar clinical features to known MMDS types.
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