CFTR c.1733T>C ;(p.L578P)

Variant ID: 7-117230460-T-C

NM_000492.3(CFTR):c.1733T>C;(p.L578P)

This variant was identified in 2 publications

View GRCh38 version.




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: 1733T>C; Leu578Pro
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1733T>C
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
  • AME2-4-220.pdf
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1733T>C
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
  • AME2-4-220.pdf
View BVdb publication page