×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
28150420
2017
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
28150420
2017
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
27444738
2016
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
27444738
2016
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
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
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
24781758
2015
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
24781758
2015
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
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
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Adaptor proteins involved in polarized sorting.
24395635
2014
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Adaptor proteins involved in polarized sorting.
24395635
2014
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
24700674
2014
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
24700674
2014
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
23472171
2013
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
23472171
2013
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
23167973
2013
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
23167973
2013
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
21620353
2011
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
20972249
2011
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
21620353
2011
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
20972249
2011
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
GeneticVariation
disease
CLINVAR
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
19559397
2009
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
0.100
CausalMutation
disease
CLINVAR
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
19559397
2009