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EBSCO

https://doi.org/10.14300/mnnc.2020.15044

Phenotypic manifestations of four newly identified mutations of the CFTR gene

[Cystic fibrosis]
Anastasia Vasilievna Goryainova; Stanislav Aleksandrovich Krasovsky; Sergey Yurievich Semykin; Andrey Evgenievich Donnikov;

The paper presents the clinical characteristics and description of phenotype of children with cystic fibrosis, as well as new genetic variants in the CFTR gene, identified as a result of NGS sequencing.

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References:
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3, 2019.

Keywords: cystic fibrosis, CFTR mutations, gene sequencing, targeted therapy