Publications:

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: A107X

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

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Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatric Pulmonology

Zheng, Baoying B; Cao, Ling L

Publication Date: 2017-03

Variant appearance in text: CFTR: Ala107X

PubMed Link: 27717243

Variant Present in the following documents:

• Main text
• PPUL-52-E11.pdf

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p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation

Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2016

Variant appearance in text: CFTR: A107X

PubMed Link: 27081564

Variant Present in the following documents:

• Main text
• hgv201563.pdf

View BVdb publication page