|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
|
27545676 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
|
27545680 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
|
27545680 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
|
27545676 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Accurate splicing of HDAC6 pre-mRNA requires SON.
|
25782155 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Accurate splicing of HDAC6 pre-mRNA requires SON.
|
25782155 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
|
23416452 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
|
24013217 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
|
23416452 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
|
24013217 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
|
23001566 |
2012 |