Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A1217_K1218insFs
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CFTR

NM_000492.4:p.A1217_K1218insFs

Associated Papers

A review of cystic fibrosis: Basic and clinical aspects.

Chen Q et al.

Animal Models and Experimental Medicine, 2021

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

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.

Shi R et al.

Pediatric Pulmonology, 2020

c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

Wang YQ et al.

World Journal of Clinical Cases, 2019

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

Li H et al.

Frontiers in Pediatrics, 2019

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Xie Y et al.

The Clinical Respiratory Journal, 2017

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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."