rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
rs80338900
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
rs80338898
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
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
rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
rs80338900
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
rs778387055
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
G
0.800
GeneticVariation
CLINVAR
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
23430822
2011
rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
23430822
2011
rs80338898
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
21764616
2011
rs121965073
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs121965074
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs121965077
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs121965078
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs778387055
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs779040832
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs80338897
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs80338898
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs80338900
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
0.800
GeneticVariation
UNIPROT
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
20003495
2009
rs80338898
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
GeneticVariation
CLINVAR
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
15187789
2004
rs80338898
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
T
0.800
CausalMutation
CLINVAR
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
15187789
2004
rs80338894
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
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