rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
23897707
2013
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
BEFREE
A missense mutation, p.V132G , in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome .
19206178
2009
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A missense mutation, p.V132G , in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome .
19206178
2009
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
18550699
2008
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
23696453
2013
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
G
0.810
CausalMutation
CLINVAR
rs267607076
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
14508504
2003
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
A
0.810
CausalMutation
CLINVAR
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
18550699
2008
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
23696453
2013
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
14508504
2003
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A ; p.G67X).
23897707
2013
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
BEFREE
We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A ; p.G67X).
23897707
2013
rs397515550
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
19206178
2009
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
19206178
2009
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
C
0.810
CausalMutation
CLINVAR
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
23897707
2013
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
14508504
2003
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome .
23696453
2013
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
G
0.810
CausalMutation
CLINVAR
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
BEFREE
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome .
23696453
2013
rs397515553
×
Entrez Id:
6611
Gene Symbol:
SMS
SMS
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
0.810
GeneticVariation
UNIPROT
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
18550699
2008