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CFTR c.53+8741A>C
Variant ID: 7-117128942-A-C
NM_000492.3(
CFTR
):c.53+8741A>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Frequency of allele variations in the CFTR gene in a Mexican population.
Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05
Variant appearance in text: rs756665
PubMed Link:
34740355
Variant Present in the following documents:
12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.
Journal Of Assisted Reproduction And Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A
Publication Date: 2020-01
Variant appearance in text: rs756665
PubMed Link:
31828483
Variant Present in the following documents:
10815_2019_Article_1635.pdf
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: rs756665
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page