×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
23756437
2014
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.
25338097
2014
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
RNA-binding proteins and translational regulation in axons and growth cones.
23734093
2013
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.
22498899
2012
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.
20584894
2010
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.
20167579
2010
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Functional diversity of the hnRNPs: past, present and perspectives.
20795951
2010
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
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:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.
19015982
2009
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
17603806
2007
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
16757948
2006
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
15822126
2005
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.
15858414
2005
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.
14623865
2003
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
11773003
2002
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
phenotype
CLINVAR
Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.
9421497
1998