rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
|
28535199 |
2017 |
rs142761835
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
|
27904153 |
2017 |
rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
|
23587913 |
2013 |
rs142761835
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
|
22350545 |
2012 |
rs142761835
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
|
22350545 |
2012 |
rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
|
22350545 |
2012 |
rs142761835
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
|
22004070 |
2011 |
rs142761835
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
|
22004070 |
2011 |
rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
|
22004070 |
2011 |
rs142761835
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
|
15486829 |
2004 |
rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
|
9665741 |
1998 |
rs142761835
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
|
2063866 |
1991 |