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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

N. Skryabin

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Open access Jul 2026

A novel variant of NF1 gene in a patient with neurofibromatosis type 1: a case report

Wholegenome sequencing identified a new pathogenic variant in the NF1 gene associated with the development of neurofibromatosis type 1, which can be used in medical genetic counseling, as well as in algorithms for molecular genetic diagnostics of patients with suspected neurofibromatosis type 1.

I. Z. Zhalsanova, E. Fonova, D. N. Erburova et al. · 0 citations

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