C-terminal variants of CSF1R

We identified three C-terminal CSF1R variants in CVM(congenital vertebral malformation) cohort.本研究在先天性脊柱畸形（congenital vertebral malformation, CVM）队列中，鉴定出3种集落刺激因子1受体（Colony Stimulating Factor 1 Receptor, CSF1R）的C端（C-terminal）变异体。