SCUBE3 Loss-of-function Causes a Recognizable Recessive Developmental Disorder Due to Defective Bone Morphogenetic Protein Signaling
The American Journal of Human Genetics（2021）
关键词
SCUBE,BMP,BMP receptors,bone morphogenetic protein,skeletal development,morphogenesis,genomic sequencing,mechanism of disease,intracellular signaling
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