PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
|
25179809 |
2014 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
|
21465523 |
2011 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PEX10 are a cause of autosomal recessive ataxia.
|
20695019 |
2010 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PEX10 are a cause of autosomal recessive ataxia.
|
20695019 |
2010 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PEX10 are a cause of autosomal recessive ataxia.
|
20695019 |
2010 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
|
17702006 |
2007 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
|
17041890 |
2006 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
|
12794690 |
2003 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
|
10862081 |
2000 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
|
10862081 |
2000 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
|
9683594 |
1998 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
|
9683594 |
1998 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
|
9683594 |
1998 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.
|
7565793 |
1995 |
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
PEROXISOME BIOGENESIS DISORDER 6B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|