rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
|
26593283 |
2016 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
|
26593283 |
2016 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
|
26387595 |
2015 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
|
26387595 |
2015 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetics and molecular basis of human peroxisome biogenesis disorders.
|
22871920 |
2012 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetics and molecular basis of human peroxisome biogenesis disorders.
|
22871920 |
2012 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Peroxisome biogenesis disorders.
|
17055079 |
2006 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Peroxisome biogenesis disorders.
|
17055079 |
2006 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
|
15098231 |
2004 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Metabolic and molecular basis of peroxisomal disorders: a review.
|
15098234 |
2004 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
|
15098231 |
2004 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Metabolic and molecular basis of peroxisomal disorders: a review.
|
15098234 |
2004 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
|
11873320 |
2002 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
|
11873320 |
2002 |
rs267608247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
|
8670792 |
1996 |
rs61753219
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
|
8670792 |
1996 |