TSC1/TSC2 mosaicism accounts for 10% of all diagnoses of tuberous sclerosis and genome sequencing fails to identify a third causative gene
Angela Peron,Rosa Maria Alfano,Barry Moore,Mark Nellist,Brent Pedersen,Francesca La Briola,Luigina Spaccini,Federica Natacci,Maria Paola Recalcati,Valentina Chiesa,Rosangela Arancio,Ugo Cavallari,Chiara Vannicola,Graziella Cefalo,Maitz Silvia,Cristina Gervasini,Pierangelo Veggiotti,Aglaia Vignoli,Gaetano Bulfamante,John Carey,Maria Paola Canevini EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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