rs28940289
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
|
25198162 |
2014 |
rs28940289
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
To address this issue and to elicit how ETHE1 dysfunction results in EE, we have investigated two such pathological mutations, ETHE1-p.Arg163Gln and p.Arg163Trp.
|
25198162 |
2014 |
rs28940289
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
|
23144459 |
2012 |
rs28940289
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs28940289
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
|
16828325 |
2006 |
rs28940289
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs28940289
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs28940289
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs1284200516
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
|
23144459 |
2012 |
rs1555765564
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
|
23144459 |
2012 |
rs387906987
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
|
23144459 |
2012 |
rs763799125
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
|
23144459 |
2012 |
rs1284200516
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs1284200516
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs1555765564
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs387906987
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs763799125
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
rs1284200516
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
|
16828325 |
2006 |
rs1284200516
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
ETHE1 mutations are specific to ethylmalonic encephalopathy.
|
16183799 |
2006 |
rs1284200516
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs1284200516
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs1555765564
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs387906987
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs763799125
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
|
14732903 |
2004 |
rs1555765564
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|