|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
|
23756437 |
2014 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.
|
25338097 |
2014 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
RNA-binding proteins and translational regulation in axons and growth cones.
|
23734093 |
2013 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.
|
22498899 |
2012 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.
|
20584894 |
2010 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.
|
20167579 |
2010 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
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 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Functional diversity of the hnRNPs: past, present and perspectives.
|
20795951 |
2010 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.
|
19015982 |
2009 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
|
17603806 |
2007 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.
|
16757948 |
2006 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.
|
15858414 |
2005 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
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 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
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 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
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 |
|
rs1553153365
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.
|
9421497 |
1998 |