Associated Papers
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33941880 (PubMed )
Supplement: NIHMS1700423-supplement-Supplementary_tables.xlsx › Table_S4
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.
Barrie ES et al.
Cold Spring Harbor Molecular Case Studies, 2019
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