rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
|
8541831 |
1995 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I.
|
24973495 |
2014 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs1555749239
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
rs1555749239
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I.
|
24973495 |
2014 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
|
18775954 |
2008 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I.
|
24973495 |
2014 |
rs1555749239
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?
|
27896087 |
2014 |
rs1555749239
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
|
8541831 |
1995 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
|
18775954 |
2008 |
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs121434366
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121434366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs121434370
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs121434370
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
rs121434370
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Glutaric aciduria type I: outcome in the Republic of Ireland.
|
15505400 |
2004 |
rs121434370
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434370
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434370
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |