Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype

Authors :: Zanoni, P.
Steindl, K.
Sengupta, D.
Sticht, H.
Joset, P.
Baar, A.
van Ravenswaaij-Arts, C. M. A.
Shinawi, M.
Maystadt, I.
Belnap, N.
Benoit, V.
de Vries, B. B. A.
Lacombe, D.
Larson, A.
Pfundt, R.
Ramsey, K.
Blok, L. Snijders
Wheeler, P. G.
Wevers, M. R.
Gozani, O.
Rauch, A.
Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Source :: European Journal of Human Genetics, 28(SUPPL 1), 355-356. Nature Publishing Group
Publication Year :: 2020

Language :: English
ISSN :: 10184813
Database :: OpenAIRE
Journal :: European Journal of Human Genetics, 28(SUPPL 1), 355-356. Nature Publishing Group
Accession number :: edsair.narcis........0560694aa24ea491cbe317260a052aa8

Tools