Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G1208fs
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CFTR

NM_000492.4:p.G1208fs

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

A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child.

Mathew A et al.

Cureus, 2021

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter E et al.

Orphanet Journal of Rare Diseases, 2017

28830496 (PubMed )
Supplement: 13023_2017_694_MOESM1_ESM.docx
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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."