Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1295fs
Back to variants list

CFTR

NM_000492.4:p.I1295fs

Associated Papers

An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.

Wang M et al.

Journal of Assisted Reproduction and Genetics, 2024

Frequency of allele variations in the CFTR gene in a Mexican population.

Cantú-Reyna C et al.

Bmc Medical Genomics, 2021

34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

β2-Adrenergic receptor agonists activate CFTR in intestinal organoids and subjects with cystic fibrosis.

Vijftigschild LA et al.

The European Respiratory Journal, 2016

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."