Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders | Genome Medicine | Full Text

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders | Genome Medicine | Full Text

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous ge...

Authors:Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, James S. Ware…

Citation:Genome Medicine 2020 12:28

Content type:Research

Published on: 17 March 2020

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