Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
Fatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, Mohammed Al‐Owain, Mohamed Tohary, Moeenaldeen AlSayed, Mohammed Mahnashi, Lana Fathi, Maha Alnemer, Mohamed H. Al‐Hamed, Gabrielle Lemire, Kym M. Boycott, Mais Hashem, Wenkai Han, Almundher Al‐Maawali, Feisal Al Mahrizi, Khalid Al‐Thihli, Xin Gao, Fowzan S. Alkuraya
Topics & Concepts
Nonsense-mediated decayMicrocephalyBiologyPhenotypeGeneticsLoss functionNonsenseIntellectual disabilityGeneRNARNA splicingGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects research