Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N505H
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CFTR

NM_000492.4:p.N505H

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

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Petrova NV et al.

Genes, 2020

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."