相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
Bertrand Isidor et al.
NATURE GENETICS (2011)
Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species
E Conti et al.
CURRENT OPINION IN CELL BIOLOGY (2005)
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
LE Maquat
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
分享论文
