Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L320_S321insFs
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CFTR

NM_000492.4:p.L320_S321insFs

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 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

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

Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.

Shen Y et al.

The 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

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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."