|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
|
28182669 |
2017 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
|
28126851 |
2017 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
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: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
|
27839871 |
2016 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
|
24903190 |
2014 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
|
24504326 |
2014 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
|
23933820 |
2013 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
|
23933819 |
2013 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
|
20890276 |
2010 |
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
50618 |
| Gene Symbol: |
ITSN2 |
ITSN2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|