CFTR c.95T>C ;(p.L32P)

Variant ID: 7-117144348-T-C

NM_000492.3(CFTR):c.95T>C;(p.L32P)

This variant was identified in 10 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: 95T>C; Leu32Pro
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 95T>C; L32P
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, 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: 95T>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: 95T>C
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
  • AME2-4-220.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs397508821
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 95T>C; Leu32Pro; rs397508821
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases
Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M
Publication Date: 2019-08-06

Variant appearance in text: CFTR: 95T>C
PubMed Link: 31423445
Variant Present in the following documents:
  • Main text
  • WJCC-7-2110.pdf
View BVdb publication page



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: 95T>C; L32P
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page



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: 95T>C; L32P
PubMed Link: 27717243
Variant Present in the following documents:
  • Main text
  • PPUL-52-E11.pdf
View BVdb publication page



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: L32P
PubMed Link: 27081564
Variant Present in the following documents:
  • Main text
  • hgv201563.pdf
View BVdb publication page