rs1057516333
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516631
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516631
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
|
23225041 |
2012 |
rs1057516684
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516934
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517084
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
rs1057517113
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517201
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517341
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517436
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517972
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
|
24016420 |
2013 |
rs1057517972
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Gene symbol: FAH. Disease: tyrosinaemia 1.
|
16521249 |
2005 |
rs1057517972
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.
|
22802474 |
2010 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
|
11196105 |
2000 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
rs121965073
|
|
|
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 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
|
8005583 |
1994 |
rs121965073
|
|
|
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 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
|
20003495 |
2009 |
rs121965073
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
|
11476670 |
2001 |
rs121965073
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121965073
|
|
|
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 |