Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G1287delFs
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CFTR

NM_000492.4:p.G1287delFs

Associated Papers

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

35858753 (PubMed )
Supplement: jmg-2022-108501supp001.pdf

A review of cystic fibrosis: Basic and clinical aspects.

Chen Q et al.

Animal Models and Experimental Medicine, 2021

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."