Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C76delFs
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CFTR

NM_000492.4:p.C76delFs

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.

Wang M et al.

Journal of Assisted Reproduction and Genetics, 2024

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
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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."