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Article

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.

International journal of molecular sciences - 28 Mar 2023

Kondratyeva Elena, Melyanovskaya Yuliya, Bulatenko Nataliya, Davydenko Ksenia, Filatova Alexandra, Efremova Anna, Skoblov Mikhail, Bukharova Tatiana, Sherman Viktoriya, Voronkova Anna, Zhekaite Elena, Krasovskiy Stanislav, Amelina Elena, Petrova Nika, Polyakov Alexander, Adyan Tagui, Starinova Marina, Krasnova Maria, Vasilyev Andrey, Makhnach Oleg, Zinchenko Rena, Kutsev Sergey, Gokdemir Yasemin, Karadag Bülent, Goldshtein Dmitry

Abstract excerpt

The pathogenic variant E92K (c.274G > A) of the CFTR gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We studied the effect of the E92K genetic variant on the CFTR function. The function of the CFTR channel was studied using the intestinal current measurements (ICM) method. The effects of CFTR modulators on the restoration of the CFTR function were...

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Identifiers

PMID: 37047318
DOI: 10.3390/ijms24076351
PMCID: PMC10093870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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