Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H1197L
Back to variants list

CFTR

NM_000492.4:p.H1197L

Associated Papers

The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.

Osadchuk L et al.

International Journal of Molecular Sciences, 2025

40724872 (PubMed )
Supplement: ijms-26-06625-s001.zip › ijms-3683063-supplementary.pdf

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
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."