Phenotypic variability and modifier variants in children with hereditary heart diseases

Despite the recent achievements in searching for the causes of monogenic human diseases, there is still a massive gap in understanding the molecular causes of phenotypic variability. At the moment, it is evident that the pathogenic genetic variant often acts together with the other genetic and non-g...

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Bibliographic Details
Main Authors: N. V. Shcherbakova, A. B. Zhironkina, V. Yu. Voinova, R. A. Ildarova, M. A. Shkolnikova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-07-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/1400