rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
|
28102598 |
2017 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypes and genotypes in individuals with SMC1A variants.
|
28548707 |
2017 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
|
26752331 |
2016 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
|
26386245 |
2015 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
|
26358754 |
2015 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
|
26354354 |
2015 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Clinical utility gene card for: Cornelia de Lange syndrome.
|
25537356 |
2015 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
|
22106055 |
2012 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
|
23106691 |
2012 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
|
20635401 |
2010 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
|
19842212 |
2010 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
rs387906702
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.
|
7757074 |
1995 |