|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
|
27421841 |
2016 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
|
25666439 |
2015 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
|
23999528 |
2014 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
|
24583395 |
2014 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
|
19826449 |
2010 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
|
18203167 |
2008 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
|
17468742 |
2007 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
|
17320160 |
2007 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
|
rs1556837420
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
|
15586325 |
2005 |