rs61752122
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
|
14630978 |
2004 |
rs61752122
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
|
23829372 |
2014 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
|
21465523 |
2011 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
|
23430938 |
2012 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
|
14630978 |
2004 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.
|
9585609 |
1998 |
rs61752123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
|
28089346 |
2017 |
rs61752124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
rs61752124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
|
21465523 |
2011 |
rs61752124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
|
10528859 |
1999 |
rs764771123
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |