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Recessive,Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans |
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| Authors: | 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 |
| Abstract: | |
| Keywords: | NMD RNA-seq SMG1C cataract intellectual disability congenital heart disease microcephaly |
