Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
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Title
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Authors
Keywords
Intellectual Disability, Intellectual Disability, Microcephaly, Missense Variant, Facial Dysmorphisms
Journal
HUMAN GENETICS
Volume 136, Issue 7, Pages 821-834
Publisher
Springer Nature
Online
2017-04-09
DOI
10.1007/s00439-017-1795-6
References
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Related references
Note: Only part of the references are listed.- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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