Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E695insFs
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CFTR

NM_000492.4:p.E695insFs

Associated Papers

Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.

Bar L et al.

Ebiomedicine, 2026

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

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Yang B et al.

Frontiers in Genetics, 2021

34276759 (PubMed )
Supplement: Data_Sheet_1.docx

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Li H et al.

Frontiers in Pediatrics, 2019

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Guo X et al.

Orphanet Journal of Rare Diseases, 2018

Four case reports of Chinese cystic fibrosis patients and literature review.

Xu J et al.

Pediatric Pulmonology, 2017

Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Zheng B et al.

Pediatric Pulmonology, 2017

[Molecular diagnosis of two Chinese cystic fibrosis children and literature review].

Xu BP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Tian X et al.

Human Genome Variation, 2016

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.

Liu Y et al.

Respirology (carlton, Vic.), 2015

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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."