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Paper Details

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
12
2022
Intellectual disability, SR-related protein family, SRRM2, SRm300 protein, arginine, autistic or attention-deficit/hyperactivity disorder, developmental delay, dysmorphic facial features, frameshift variants, human, hypotonia, intellectual disability, messenger RNA, neurodevelopmental disease, neurodevelopmental disorder, nonsense variants, overfriendliness, overweight, patients, serine, speech delay
Author NameAffiliation
Shana WhiteStanford University and Health Care
Han G BrunnerRadboud University Medical Center, Maastricht University Medical Center
Bert B A de VriesRadboud University Medical Center
Ian D KrantzChildren's Hospital of Philadelphia
Irene ValenzuelaHospital Vall d'Hebron
Yaping Yang
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