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

Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M. Girisha

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21 Citations (Scopus)

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Medicine & Life Sciences