De novo variants in ATP2B1 lead to neurodevelopmental delay
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel C. Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B.A. de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Zunz Henig, Florence Démurger, Nils Rahner, Enrika Bartels, J. Austin Hamm, Abbey M. Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann
Topics & Concepts
Missense mutationPhenotypeBiologyHEK 293 cellsProbandNonsense mutationGeneticsMutationCalmodulinNeuroscienceCell biologyMedicineInternal medicineGeneCalciumRNA and protein synthesis mechanismsGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases