Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1212fs
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CFTR

NM_000492.4:p.V1212fs

Associated Papers

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

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

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

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Liu K et al.

Orphanet Journal of Rare Diseases, 2020

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."