rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
|
27805744 |
2017 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
|
18636565 |
2009 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.
|
26426690 |
2015 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.
|
25380603 |
2015 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
|
15488219 |
2004 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
|
14661163 |
2004 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
|
23550058 |
2013 |
rs104894931
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Allan-Herndon-Dudley syndrome (AHDS)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
|
25527620 |
2015 |