日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma.

病例报告:中国藏族家族性视网膜母细胞瘤中RB1基因的新型种系供体剪接位点突变

He Guo-Qian, Zheng Ying-Chun, Tan Lin-Jun, Shen Cheng-Qi, Gao Ju, Xiong Fu, Guo Xia

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes

中国家系中罕见的TINF2杂合缺失移码突变及其多种TBD表型

Ren, Hai-Long; Zheng, Ying-Chun; He, Guo-Qian; Gao, Ju; Guo, Xia