|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
|
25681080 |
2015 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
|
15638932 |
2005 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
|
15638932 |
2005 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
|
9101289 |
1997 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
|
8557261 |
1996 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
|
8557261 |
1996 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
|
8028615 |
1994 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Self-induced correction of the genetic defect in tyrosinemia type I.
|
7929843 |
1994 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
|
8028615 |
1994 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Self-induced correction of the genetic defect in tyrosinemia type I.
|
7929843 |
1994 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |
|
rs121965075
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |