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Human Genetics|June 29, 2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel diseaseMara Cananzi, Elizabeth Wohler, Antonio Marzollo, et al.Aging Cell|December 18, 2013
The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specificNicola Raule, Federica Sevini, Shengting Li, et al.American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.Pageof 7