Associated Papers
Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25.
Salemi SE et al.
Stem Cell Research, 2025
A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype.
Iijima H et al.
Molecular Genetics and Metabolism Reports, 2025
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Webb BD et al.
Human Mutation, 2015
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