rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
|
11476670 |
2001 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
|
11278491 |
2001 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
|
24756054 |
2014 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
|
9633815 |
1998 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
|
7550234 |
1995 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
|
8364576 |
1993 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
|
7942842 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
|
8005583 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
|
7977370 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
|
1401056 |
1992 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs80338900
|
|
Tyrosinemia, Type I
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
rs80338900
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
|
11196105 |
2000 |
rs80338898
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
|
8005583 |
1994 |
rs80338898
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
|
7550234 |
1995 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |
rs80338898
|
|
Tyrosinemia, Type I
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
|
9633815 |
1998 |
rs80338898
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |