rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
|
26708753 |
2016 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
|
26708753 |
2016 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
|
26708753 |
2016 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
|
23151060 |
2013 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
rs786204963
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
|
23151060 |
2013 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
|
23151060 |
2013 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
rs786204967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
rs1555951954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
|
22678952 |
2012 |