×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
28393272
2017
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
28815871
2017
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
28944577
2017
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
26845106
2016
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
25590979
2015
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
22678713
2012
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
21800092
2012
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
20382278
2010
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Functional diversity of the hnRNPs: past, present and perspectives.
20795951
2010