Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E681delFs
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CFTR

NM_000492.4:p.E681delFs

Associated Papers

Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.

Chowdhury MR et al.

Gene, 2026

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

Křenková P et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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."