Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I132S
Back to variants list

CFTR

NM_000492.4:p.I132S

Associated Papers

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name

Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.

Wong LJ et al.

American Journal of Medical Genetics. Part A, 2003

Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.

Alper OM et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003

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."