Author

R. Mustafin

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Open access Aug 2026

Neurofibromatosis type 1 in a patient with a unique c.1369_1370insGGGTC mutation in the NF1 gene

Targeted therapy in NF1 caused by a unique, previously unreported NF1 gene mutation resulted in a significant tumor size reduction, indicating the effectiveness of this approach in NF1 caused by this pathogenic NF1 variant.

R. Mustafin · Pediatric Hematology/Oncolog... · 0 citations

Open access Jul 2026

Comprehensive treatment of severe neurofibromatosis type 1 manifestations in the patient with NF1 mutation: c.240_241del(p.Y80fs)

The genetic and clinical features of NF1 and its treatment tactics in the patient with severe manifestations of the disease and a unique mutation in the NF1 gene are described.

R. Mustafin · Siberian journal of oncology · 0 citations