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Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause

functional proteins. They can be small, about 20 nucleotides in length, and are known as microRNAs (mi

. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated

-wide association studies have provided evidence that several variants of the FTO and MC4R genes are significantly

method. To search for the pathogenic variants we found in publications by other authors, we analyzed

by the presence of either a c.835-18C>T intronic variant or a c.842G>C p.(Arg281Thr) missense variant in the SMN1

The Role of Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway

ОСОБЕННОСТИ ПОЛИМОРФИЗМА ГЕНОВ РЕНИН-АНГИОТЕНЗИНОВОЙ СИСТЕМЫ У НЕДОНОШЕННЫХ НОВОРОЖДЕННЫХ

2, CHEK2 and NBN genes, potentially pathogenic genetic variants in new breast and ovarian cancer

ФАРМАКОГЕНЕТИКА БРОНХИАЛЬНОЙ АСТМЫ

Страница 6 из 55