Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M348insFs
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CFTR

NM_000492.4:p.M348insFs

Associated Papers

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Bergougnoux A et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders.

Giordano S et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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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."