|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
|
28166604 |
2017 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
|
22391996 |
2012 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.
|
20694756 |
2010 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.
|
20694756 |
2010 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
|
20556518 |
2010 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
|
18249054 |
2008 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
|
17237122 |
2007 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
|
17237122 |
2007 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
|
16983147 |
2006 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
|
15896653 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
|
15952211 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
|
15952211 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
|
15805162 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
|
15805162 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
|
15896653 |
2005 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
|
12914579 |
2003 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in the human DHCR7 gene.
|
11241839 |
2001 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
|
11175299 |
2001 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
|
rs143312232
|
|
Smith-Lemli-Opitz Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |