Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q685insFs
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CFTR

NM_000492.4:p.Q685insFs

Associated Papers

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

Atag E et al.

Pediatric Pulmonology, 2019

Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Terzic M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E et al.

Plos One, 2014

N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.

Gené GG et al.

Human Mutation, 2008

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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."