Publications:

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1409T>A; Val470Glu

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1409T>A; V470E

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Frontiers In Genetics

Yang, Binyi B; Lei, Cheng C; Yang, Danhui D; Tan, Zhiping Z; Guo, Ting T; Luo, Hong H

Publication Date: 2021

Variant appearance in text: CFTR: 1409T>A; V470E

PubMed Link: 34276759

Variant Present in the following documents:

• Main text
• fgene-12-631221.pdf

View BVdb publication page