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Paper Details

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Elife
2
2023
ACP, COXII, ETC enzyme, MCAT, Malonyl-CoA, Malonyl-CoA-acyl carrier protein transacylase, NDUFB8, SDHB, acyl, biallelic variants, complex I, complex II, failure to thrive, fatty acid, fibroblasts, hypotonia, immortalized skeletal myoblasts, lymphoblasts, malonyl, malonyl-CoA, mitochondrial acyl carrier protein, mouse, mouse immortalized skeletal myoblasts, mtFAS genes, nystagmus, patient, wild
Author NameAffiliation
Bryn D WebbDepartment of Pediatrics and Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health
Bryn D WebbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbDepartment of Pediatrics and Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Sander M HoutenIcahn School of Medicine at Mount Sinai
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Release 1.2