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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, M. Cristina Digilio, Alessandro De Luca, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa

2024European Journal of Human Genetics13 citationsDOIOpen Access PDF

Topics & Concepts

Noonan syndromePhenotypeCorrelationGeneticsBiologyMedicineGeneMathematicsGeometryProtein Tyrosine PhosphatasesRNA modifications and cancerGalectins and Cancer Biology
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant | Litcius