Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L578delFs
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CFTR

NM_000492.4:p.L578delFs

Associated Papers

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

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.

Majed OAK et al.

Molecular Genetics and Genomics : Mgg, 2024

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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