Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: RYR1: 4113G>C; Arg1371Ser

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Scientific Reports

Wang, Yan Y; Peng, Wei W; Guo, Hong-Yan HY; Li, Hui H; Tian, Jie J; Shi, Yu-Jing YJ; Yang, Xiao X; Yang, Yao Y; Zhang, Wan-Qiao WQ; Liu, Xin X; Liu, Guan-Nan GN; Deng, Tao T; Sun, Yi-Min YM; Xing, Wan-Li WL; Cheng, Jing J; Feng, Zhi-Chun ZC

Publication Date: 2016-06-29

Variant appearance in text: RYR1: Arg1371Ser; rs551509462

PubMed Link: 27353517

Variant Present in the following documents:

• Main text
• srep29088.pdf

View BVdb publication page