rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
|
26490104 |
2016 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of deleterious synonymous variants in human genomes.
|
23736532 |
2013 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
17377820 |
2007 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
17377820 |
2007 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
rs386834048
|
Entrez Id: |
54903 |
Gene Symbol: |
MKS1 |
MKS1
|
Meckel-Gruber syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |