|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
|
25693842 |
2016 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
|
25693842 |
2016 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
|
25552650 |
2015 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
|
25552650 |
2015 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
|
24700674 |
2014 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Adaptor proteins involved in polarized sorting.
|
24395635 |
2014 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
|
24700674 |
2014 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Adaptor proteins involved in polarized sorting.
|
24395635 |
2014 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
|
23167973 |
2013 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
|
23472171 |
2013 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
|
23167973 |
2013 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
|
23472171 |
2013 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
|
22290197 |
2012 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
|
22290197 |
2012 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
|
20972249 |
2011 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
|
21620353 |
2011 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
|
20972249 |
2011 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
|
21620353 |
2011 |
|
AP4B1-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
|
19559397 |
2009 |
|
AP4B1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
|
19559397 |
2009 |