Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditi...

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Detalles Bibliográficos
Autores principales: Sotnikova, Evgeniia A., Kiseleva, Anna V., Kutsenko, Vladimir A., Zharikova, Anastasia A., Ramensky, Vasily E., Divashuk, Mikhail G., Vyatkin, Yuri V., Klimushina, Marina V., Ershova, Alexandra I., Revazyan, Karina Z., Skirko, Olga P., Zaicenoka, Marija, Efimova, Irina A., Pokrovskaya, Maria S., Kopylova, Oksana V., Glechan, Anush M., Shalnova, Svetlana A., Meshkov, Alexey N., Drapkina, Oxana M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322704/
https://www.ncbi.nlm.nih.gov/pubmed/35887629
http://dx.doi.org/10.3390/jpm12071132

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