Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA, Kiseleva AV, Kutsenko VA, Zharikova AA, Ramensky VE, Divashuk MG, Vyatkin YV, Klimushina MV, Ershova AI, Revazyan KZ, Skirko OP, Zaicenoka M, Efimova IA, Pokrovskaya MS, Kopylova OV, Glechan AM, Shalnova SA, Meshkov AN, Drapkina OM.
Sotnikova EA, et al. Among authors: shalnova sa.
J Pers Med. 2022 Jul 12;12(7):1132. doi: 10.3390/jpm12071132.
J Pers Med. 2022.
PMID: 35887629
Free PMC article.