|
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
|
28755192 |
2017 |
|
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 |
|
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Type 1 Tyrosinaemia.
|
27814443 |
2016 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
|
25256450 |
2015 |
|
rs80338895
|
|
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 |
|
rs786204683
|
|
Tyrosinemia, Type I
|
T |
0.700 |
GeneticVariation
|
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 |
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
|
25681080 |
2015 |
|
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
|
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 |
|
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
|
25081276 |
2014 |
|
rs80338901
|
|
Tyrosinemia, Type I
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
|
23895425 |
2014 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
|
25081276 |
2014 |
|
rs1247460110
|
|
Tyrosinemia, Type I
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
|
23895425 |
2014 |
|
rs80338898
|
|
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
|
|
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 |
|
rs970505762
|
|
Tyrosinemia, Type I
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
|
23927806 |
2013 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
|
24555242 |
2013 |
|
rs80338895
|
|
Tyrosinemia, Type I
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
|
23348723 |
2013 |
|
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 |
|
rs1057517972
|
|
Tyrosinemia, Type I
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
|
24016420 |
2013 |
|
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 |
|
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 |
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
|
22002443 |
2012 |
|
rs769550316
|
|
Tyrosinemia, Type I
|
|
0.710 |
GeneticVariation
|
BEFREE |
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
|
22884142 |
2012 |