Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures

D. Rots, E. Chater-Diehl, A. J. M. Dingemans, M. Siu, C. Cytrynbaum, N. Hoang, S. Walker, S. Scherer, R. Pfundt, T. Rinne, T. Gardeitchik, B. B. A. de Vries, C. T. R. M. Stumpel, S. J. C. Stevens, J. van Harssel, D. G. M. Bosch, K. L. I. van Gassen, E. van Binsbergen, C. M. de Geus, M. HempelD. Lessel, J. Denecke, A. Slavotinek, J. Strober, L. B. Ousager, M. Larsen, L. Schultz-Rogers, E. Morava, E. W. Klee, I. R. Berry, J. Campbell, K. Lindstrom, A. M. Neumeyer, J. A. Radley, C. Phornphutkul, W. G. Wilson, B. Schmidt, S. Meyn, K. Ounap, K. Reinson, S. Pajusalu, C. Ruivenkamp, A. van Haeringen, R. Cuperus, L. E. L. M. Vissers, H. G. Brunner, T. Kleefstra, D. A. Koolen, R. Weksberg, GeneDx Inc

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume28
Issue numberSuppl. 1
Pages (from-to)34-35
ISSN1018-4813
Publication statusPublished - 1. Dec 2020
EventEuropean Human Genetics Conference 2020 - Messe Berlin – CityCube, Berlin, Germany
Duration: 6. Jun 20209. Jun 2020
https://2020.eshg.org/

Conference

ConferenceEuropean Human Genetics Conference 2020
LocationMesse Berlin – CityCube
Country/TerritoryGermany
CityBerlin
Period06/06/202009/06/2020
Internet address

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