Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2

Xie, SY; Leng, XY; Tao, DC; Zhang, YW; Wang, ZK; Zhang, XY; He, TR; Tan, XL; Liu, YQ; Yang, Y

Yang, Y (通讯作者),Sichuan Univ, West China Hosp, West China Med Sch, Dept Med Genet,State Key Lab Biotherapy, Chengdu, Peoples R China.

JOURNAL OF HUMAN GENETICS, 2022; 67 (1): 27

Abstract

The development of sequencing techniques identified numerous genetic variants, and accurate evaluation of the clinical significance of these variants ......

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