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CFTR c.3062C>T ;(p.P1021L)
Variant ID: 7-117250646-C-T
NM_000492.3(
CFTR
):c.3062C>T;(p.P1021L)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05
Variant appearance in text: CFTR: 3062C>T; Pro1021Leu
PubMed Link:
36604502
Variant Present in the following documents:
41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
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: 3062C>T; Pro1021Leu
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: 3062C>T; Pro1021Leu
PubMed Link:
35313924
Variant Present in the following documents:
13023_2022_2279_MOESM1_ESM.xls, sheet 1
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: 3062C>T
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: 3062C>T
PubMed Link:
34557648
Variant Present in the following documents:
Main text
AME2-4-220.pdf
View BVdb publication page
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015
Variant appearance in text: CFTR: 3062C>T; P1021L
PubMed Link:
26274329
Variant Present in the following documents:
Main text
pone.0133636.pdf
View BVdb publication page