Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1309_D1312del0
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CFTR

NM_000492.4:p.Q1309_D1312del0

Associated Papers

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Petrova NV et al.

Bmc Medical Genetics, 2019

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Petrova NV et al.

Clinical Genetics, 2019

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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."