De novo variants in ATP2B1 lead to neurodevelopmental delay

Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M. S.; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P. A.; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B. A.; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J. Austin; Putnam, Abbey M.; Person, Richard; Abou Jamra, Rami; Oppermann, Henry

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Cell Press, American Journal of Human Genetics, 5(109), p. 944-952, 2022

DOI: 10.1016/j.ajhg.2022.03.009

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De novo variants in ATP2B1 lead to neurodevelopmental delay

Journal article published in 2022 by 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 and other authors.

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De novo variants in ATP2B1 lead to neurodevelopmental delay