functional proteins. They can be small, about 20
nucleotides in length, and are known as microRNAs (mi
Dorling, L.,
Carvalho, S.,
Allen, J.,
González-Neira, A.,
Luccarini, C.,
Wahlström, C.,
Pooley, K.A.,
Parsons, M.T.,
Fortuno, C.,
Wang, Q.,
Bolla, M.K.,
Dennis, J.,
Bermisheva, M.,
Khusnutdinova, E.,
Prokofyeva, D.,
other additional authors (2021) . 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
Mustafin, R.N.,
Bermisheva, M.A.,
Karunas, A.S.,
Akhmetshin, A.A.,
Monakhova, A.S.,
Khusnutdinova, E.K. (2025) method. To search for the pathogenic
variants we found in publications by other authors, we analyzed
Akhkiamova, Maria,
Polyakov, Aleksander,
Marakhonov, Andrey,
Voronin, Sergey,
Saifullina, Elena,
Vafina, Zulfiia,
Michalchuk, Kristina,
Braslavskaya, Svetlana,
Chukhrova, Alena,
Ryadninskaya, Nina,
Kutsev, Sergey,
Shchagina, Olga (2024) by the presence of either a c.835-18C>T intronic
variant or a c.842G>C p.(Arg281Thr) missense
variant in the SMN1
Mingazheva, E.T.,
Prokofyeva, D.S.,
Valova, Ya.V.,
Andreeva, E.A.,
Nurgalieva, A.Kh.,
Valiev, R.R.,
Ekomasova, N.V.,
Faishanova, R.R.,
Romanova, A.R.,
Khusnutdinova, E.K. (2022) 2, CHEK2 and NBN genes,
potentially pathogenic genetic
variants in new breast and ovarian cancer