TY  - RPRT
TI  - A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.
AU  - Mengxiao Liu
AU  - Hao Zheng
AU  - Zhixiang Li
AU  - Runfei Pang
AU  - Yang Niu
AU  - Lei Yang
AU  - Zhenxiang Zhang
AU  - Jianguo Xia
AU  - Xiuhong Pang
PY  - 2025
DO  - 10.1186/s12920-025-02101-y
UR  - https://pubmed.ncbi.nlm.nih.gov/39994654/
ID  - 39994654
ER  -