Rare variants modulating phenotype in NF1 carriers

Rare variants modulating phenotype in NF1 carriers

Abstract Neurofibromatosis type 1 (NF1) is a rare genetic disorder with highly variable phenotypes, ranging from psychosocial challenges and congenital malformations to benign tumors and even aggressive cancers. We hypothesize that this variability stems from additional rare variants in other genes,...

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Main Authors: Elena Pasquinelli, Giulia Casamassima, Giulia Brunelli, Omaima Belakhdar, Samantha Minetto, Salvatore Grosso, Roberto Canitano, Stefania Marsili, Ignazio Martellucci, Salvadora Tindara Miano, Roberto Petrioli, Margherita Baldassarri, Romina D’Aurizio, Chiara Fallerini, Alessandra Renieri
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-09751-z
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