rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
|
23599694 |
2013 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
The NSD1 and EZH2 overgrowth genes, similarities and differences.
|
23592277 |
2013 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
|
23913520 |
2013 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
|
23599694 |
2013 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
|
23913520 |
2013 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The NSD1 and EZH2 overgrowth genes, similarities and differences.
|
23592277 |
2013 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Sotos syndrome.
|
17825104 |
2007 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sotos syndrome.
|
17825104 |
2007 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
|
15942875 |
2005 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
|
15942875 |
2005 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
|
14571271 |
2003 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
|
12464997 |
2003 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
|
12807965 |
2003 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
|
14571271 |
2003 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
|
12464997 |
2003 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
|
12807965 |
2003 |
rs1554189042
|
|
TAG |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of NSD1 causes Sotos syndrome.
|
11896389 |
2002 |
rs1554199501
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of NSD1 causes Sotos syndrome.
|
11896389 |
2002 |