|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
|
28228639 |
2017 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
|
28389307 |
2017 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
|
28095420 |
2017 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
|
28051072 |
2017 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
|
27164704 |
2016 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical application of whole-exome sequencing across clinical indications.
|
26633542 |
2016 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
|
25864721 |
2015 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2902 |
| Gene Symbol: |
GRIN1 |
GRIN1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|