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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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