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Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN. Yanus GA, et al. Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24. Eur J Med Genet. 2019. PMID: 31028847
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino …
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in kn …