Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
SON controls cell-cycle progression by coordinated regulation of RNA splicing.
|
21504830 |
2011 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Son maintains accurate splicing for a subset of human pre-mRNAs.
|
22193954 |
2011 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Son maintains accurate splicing for a subset of human pre-mRNAs.
|
22193954 |
2011 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
|
23001566 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
|
23001566 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
|
23416452 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
|
23416452 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
|
23595291 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
|
24013217 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
|
24013217 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |