rs28939092
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
rs387906939
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
rs387906940
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
rs28939092
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
rs387906939
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
rs387906940
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
rs119475041
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs119475041
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs119475041
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs28939092
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906939
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906940
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs281797256
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
rs281797257
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
rs281797256
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
rs281797257
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
rs387906938
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|