Skip to Main Content

Paper Details

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
54
2017
1q44 region, CCA, CNS, cardiac, and renal anomalies, HNRNPU, HNRNPU gene, HNRNPU variants, ID, OMIM *602869, RNA, cardiac, corpus callosum abnormalities, epilepsy, epileptic encephalopathy, genes, heterogeneous nuclear ribonucleoprotein U, heterogeneous nuclear ribonucleoproteins, hnRNPs, human, hypotonia, intellectual disability, microcephaly, neurodegenerative diseases, patients, renal abnormalities, seizures, speech impairment
Author NameAffiliation
Daniel H LowensteinUniversity of California san francisco
Thomas WielandInstitute of Human Genetics
Thomas WielandInstitute of Human Genetics, Technische Universitat Munchen
Tim M StromInstitute of Human Genetics
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen
  • 1 - 5

Datasets

Release 1.2