Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R289fs
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CFTR

NM_000492.4:p.R289fs

Associated Papers

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.

Zybert K et al.

Pediatric Pulmonology, 2020

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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."