Associated Papers
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Webb BD et al.
Elife, 2023
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Li H et al.
Human Molecular Genetics, 2020
Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases.
Iwata T
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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