Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L295delFs
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CFTR

NM_000492.4:p.L295delFs

Associated Papers

Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.

Bu H et al.

Bmc Pediatrics, 2025

[Clinical phenotypes and genotypic spectrum of cystic fibrosis with pancreatic insufficiency in children].

Guo ZY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

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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."