Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S307N
Back to variants list

CFTR

NM_000492.4:p.S307N

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

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

The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.

Masvidal L et al.

Genetic Testing and Molecular Biomarkers, 2009

Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.

Levy EM et al.

Medicina, 2004

Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.

Onay T et al.

Clinical Genetics, 1999

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar HH et al.

Annals of Saudi Medicine, 0

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."