rs397515549
|
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
|
0.800 |
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 |
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 |
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 |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
rs397515549
|
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
|
0.800 |
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 |
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 |
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 |
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 |
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 |
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 |
BEFREE |
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
|
23696453 |
2013 |
rs397515549
|
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
|
0.800 |
GeneticVariation |
UNIPROT |
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
|
23696453 |
2013 |
rs397515549
|
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
|
23897707 |
2013 |