rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
|
27642715 |
2016 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
|
22541558 |
2012 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
|
24003905 |
2014 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
|
23568615 |
2013 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
|
18000904 |
2007 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
|
18000904 |
2007 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
|
22541558 |
2012 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
|
24715698 |
2014 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
|
23568615 |
2013 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
|
24715698 |
2014 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
|
27642715 |
2016 |
rs387907186
|
Entrez Id: |
10262 |
Gene Symbol: |
SF3B4 |
SF3B4
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
|
24003905 |
2014 |