Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1179fs
Back to variants list

CFTR

NM_000492.4:p.T1179fs

Associated Papers

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

L138ins Variant of the CFTR Gene in Russian Infertile Men.

Chernykh V et al.

Genes, 2023

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Sicko RJ et al.

International Journal of Neonatal Screening, 2021

34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Kiseleva AV et al.

Journal of Personalized Medicine, 2020

32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."