rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
|
24781758 |
2015 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
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 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Adaptor proteins involved in polarized sorting.
|
24395635 |
2014 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
|
24700674 |
2014 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
|
25496299 |
2014 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
|
23472171 |
2013 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
|
23167973 |
2013 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
|
21620353 |
2011 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
|
20972249 |
2011 |
rs1554380093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
|
19559397 |
2009 |