Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Por Carlston, Colleen M., O’Donnell-Luria, Anne H., Underhill, Hunter R., Cummings, Beryl B., Weisburd, Ben, Minikel, Eric V., Birnbaum, Daniel P., Tvrdik, Tatiana, MacArthur, Daniel G., Mao, Rong
Publicado no Hum Mutat (2017)