rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].
|
1944255 |
1991 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].
|
3054499 |
1988 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.
|
11306577 |
2001 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Son maintains accurate splicing for a subset of human pre-mRNAs.
|
22193954 |
2011 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Son is essential for nuclear speckle organization and cell cycle progression.
|
20053686 |
2010 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SON is a spliceosome-associated factor required for mitotic progression.
|
20581448 |
2010 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SON controls cell-cycle progression by coordinated regulation of RNA splicing.
|
21504830 |
2011 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
|
24013217 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.
|
10950926 |
2000 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
|
23416452 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular cloning of Fyn-associated molecules in the mouse central nervous system.
|
9185665 |
1997 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.
|
19961433 |
2010 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.
|
12606581 |
2003 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
|
27545676 |
2016 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
|
27545680 |
2016 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterising and predicting haploinsufficiency in the human genome.
|
20976243 |
2010 |
rs1555899379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
|
23001566 |
2012 |