CFTR c.*1043A>C

Variant ID: 7-117308205-A-C

NM_000492.3(CFTR):c.*1043A>C

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The Multifaceted Roles of MicroRNAs in Cystic Fibrosis.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Raia, Valeria V; Kroemer, Guido G; Maiuri, Maria Chiara MC
Publication Date: 2020-12-17

Variant appearance in text: rs10234329
PubMed Link: 33348555
Variant Present in the following documents:
  • Main text
  • diagnostics-10-01102.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: rs10234329
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs10234329
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Non-Coding RNAs in Pediatric Airway Diseases.

Genes
Narożna, Beata B; Langwiński, Wojciech W; Szczepankiewicz, Aleksandra A
Publication Date: 2017-11-27

Variant appearance in text: rs10234329
PubMed Link: 29186897
Variant Present in the following documents:
  • Main text
  • genes-08-00348.pdf
View BVdb publication page



Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09

Variant appearance in text: rs10234329
PubMed Link: 26436105
Variant Present in the following documents:
  • Main text
  • mgg30003-0396.pdf
View BVdb publication page



Novel insights into miRNA in lung and heart inflammatory diseases.

Mediators Of Inflammation
Kishore, Amit A; Borucka, Jana J; Petrkova, Jana J; Petrek, Martin M
Publication Date: 2014

Variant appearance in text: rs10234329
PubMed Link: 24991086
Variant Present in the following documents:
  • Main text
  • MI2014-259131.pdf
View BVdb publication page



Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

Plos One
Amato, Felice F; Seia, Manuela M; Giordano, Sonia S; Elce, Ausilia A; Zarrilli, Federica F; Castaldo, Giuseppe G; Tomaiuolo, Rossella R
Publication Date: 2013

Variant appearance in text: rs10234329
PubMed Link: 23555973
Variant Present in the following documents:
  • Main text
  • pone.0060448.pdf
View BVdb publication page