rs80338894
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
|
26565546 |
2016 |
rs80338900
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
|
24756054 |
2014 |
rs80338900
|
|
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
|
|
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
|
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
|
23193487 |
2012 |
rs80338894
|
|
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
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
rs778387055
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
rs80338894
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
|
23430822 |
2011 |
rs80338898
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |
rs80338898
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
|
21764616 |
2011 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs121965074
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs121965077
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs121965078
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs778387055
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs779040832
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338894
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338897
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338898
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338900
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs80338898
|
|
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
|
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
|
14691918 |
2003 |