rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
|
20635401 |
2010 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
|
24124034 |
2013 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |
rs122454122
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
|
20635401 |
2010 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
|
24124034 |
2013 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
rs122454123
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
|
17273969 |
2007 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
|
20635401 |
2010 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
|
24124034 |
2013 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |
rs1556890815
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
19701948 |
2009 |
rs387906702
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
Congenital muscular hypertrophy-cerebral syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |