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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes - 27 Sept 2020

Petrova Nika V, Kashirskaya Nataliya Y, Krasovskiy Stanislav A, Amelina Elena L, Kondratyeva Elena I, Marakhonov Andrey V, Vasilyeva Tatyana A, Voronkova Anna Y, Sherman Victoria D, Ginter Evgeny K, Kutsev Sergey I, Zinchenko Rena A

Abstract excerpt

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four...

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PMID: 32992607
DOI: 10.3390/genes11101137
PMCID: PMC7600230

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Source receipt: pubmed, retrieved 7 Sept 2026.

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