Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1468*
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CFTR

NM_000492.4:p.K1468*

Associated Papers

NHERF1 and CFTR restore tight junction organisation and function in cystic fibrosis airway epithelial cells: role of ezrin and the RhoA/ROCK pathway.

Castellani S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2012

Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.

Bienvenu T et al.

Clinical Genetics, 2003

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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."