Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L578fs
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CFTR

NM_000492.4:p.L578fs

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Al Oraimi S et al.

Oman Medical Journal, 2022

Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

Fass UW et al.

Sultan Qaboos University Medical Journal, 2014

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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."