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Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha
doi: https://doi.org/10.1101/089292
Anju Shukla
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, 576104, India.
Malavika Hebbar
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, 576104, India.
Anshika Srivastava
2Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 481091274, USA.
Rajagopal Kadavigere
3Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal University, Karnataka, 576104, India.
Priyanka Upadhyai
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, 576104, India.
Anil Kanthi
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, 576104, India.
Oliver Brandau
4Centogene AG, Rostock, 18055, Germany.
Stephanie Bielas
2Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 481091274, USA.
Katta M Girisha
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, 576104, India.
Article usage
Posted November 23, 2016.
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha
bioRxiv 089292; doi: https://doi.org/10.1101/089292
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha
bioRxiv 089292; doi: https://doi.org/10.1101/089292
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