Ayupova, Guzel,
Litvinov, Sergey,
Akhmetova, Vita,
Minniakhmetov, Ildar,
Mokrysheva, Natalia,
Khusainova, Rita (2024) regulator gene (CFTR)
mutations in the population, which is determined by genetic diversity and ethnicity
Idiiatullina, Elina,
Al-Azab, Mahmoud,
Lin, Meng,
Hrovat-Schaale, Katja,
Liu, Ziyang,
Li, Xiaotian,
Guo, Caiqin,
Chen, Xixi,
Li, Yaoying,
Gao, Song,
Cui, Jun,
Zhou, Wenhao,
Liu, Li,
Zhang, Yuxia,
Masters, Seth L. (2024) , and autoinflammatory disease due to type I IFN. Here, we show that a dominant negative
mutation in the gene encoding
Lenkova, Ksenia,
Khusainova, Rita,
Minyazeva, Raushaniya,
Zaripova, Aliya,
Gilyazova, Irina,
Mokrysheva, Natalia,
Minniakhmetov, Ildar (2024) as variants of uncertain significance (VUSs). Moreover, seven pathogenic or likely pathogenic
mutations were
Subbotin, Dmitrii,
Ionova, Sofya,
Marakhonov, Andrey,
Saifullina, Elena,
Borovikov, Artem,
Akhmadeeva, Leila,
Chausova, Polina,
Ryzhkova, Oksana,
Zinchenko, Rena,
Kutsev, Sergey,
Murtazina, Aysylu (2024) , Tatar, and Bashkir) and estimated the age of the
mutation’s spread event. Results: The c.169_170delins