rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
|
26565546 |
2016 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
|
22002443 |
2012 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
|
23193487 |
2012 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
|
14691918 |
2003 |
rs80338894
|
|
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 |
rs80338894
|
|
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
|
11196105 |
2000 |
rs80338894
|
|
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
|
9101289 |
1997 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Fumarylacetoacetase mutations in tyrosinaemia type I.
|
8829657 |
1996 |
rs80338894
|
|
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs80338894
|
|
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
|
8005583 |
1994 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
|
7942842 |
1994 |
rs80338894
|
|
Tyrosinemia, Type I
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
|
7942842 |
1994 |
rs80338894
|
|
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 |
rs80338894
|
|
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 |
rs80338894
|
|
Tyrosinemia, Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |
rs80338894
|
|
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 |