Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E403_G404Splc
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CFTR

NM_000492.4:p.E403_G404Splc

Associated Papers

Progression and mortality of patients with cystic fibrosis in China.

Zhou W et al.

Orphanet Journal of Rare Diseases, 2025

39773272 (PubMed )
Supplement: 13023_2024_3522_MOESM1_ESM.docx

Cystic fibrosis caused by homozygous CFTR gene mutation leading to pulmonary involvement: a case report.

Duan JP et al.

American Journal of Translational Research, 2025

Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.

Xu C et al.

Pediatric Pulmonology, 2023

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Shen Y et al.

Journal of Medical Genetics, 2022

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis.

Zhao X et al.

Frontiers of Medicine, 2022

Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.

Shen Y et al.

Pediatric Pulmonology, 2020

[Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis].

Liu JR et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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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."