Associated Papers
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Iglesias-Romero AB et al.
American Journal of Human Genetics, 2024
The role of novel COQ8B mutations in glomerulopathy and related kidney defects.
AbuMaziad AS et al.
American Journal of Medical Genetics. Part A, 2021
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