Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re‐evaluated the NF1 gene variants found in the period 2000–2019 and...

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Detalles Bibliográficos
Autores principales: Riva, Matteo, Martorana, Davide, Uliana, Vera, Caleffi, Edoardo, Boschi, Elena, Garavelli, Livia, Ponti, Giovanni, Sangiorgi, Luca, Graziano, Claudio, Bigoni, Stefania, Rocchetti, Luca Maria, Madeo, Simona, Soli, Fiorenza, Grosso, Enrico, Carli, Diana, Goldoni, Matteo, Pisani, Francesco, Percesepe, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291954/
https://www.ncbi.nlm.nih.gov/pubmed/34427956
http://dx.doi.org/10.1002/gcc.22997

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