|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
|
28817236 |
2017 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Variants in CUL4B are associated with cerebral malformations.
|
25385192 |
2015 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
|
24898194 |
2014 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
|
21816345 |
2011 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
|
20002452 |
2010 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
|
20655035 |
2010 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CRL4s: the CUL4-RING E3 ubiquitin ligases.
|
19818632 |
2009 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
|
17273978 |
2007 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
|
17236139 |
2007 |
|
rs1556213001
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
|
10978355 |
2000 |