Изменения иммунной системы в патогенезе нейрофиброматоза 1-го типа of the population. NF1 is caused by germline heterozygous
mutations in the NF1 gene, which encodes
, the search for
mutations in these genes is promising. Conclusion Most patients with NF1 develop orthopedic
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