rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.
|
6306230 |
1983 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Integrative mechanisms of oriented neuronal migration in the developing brain.
|
23937349 |
2013 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.
|
16635252 |
2006 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
|
20890276 |
2010 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.
|
17315208 |
2007 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
NMDA receptors, glial cells, and clinical medicine.
|
16600850 |
2006 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
|
27164704 |
2016 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
|
28051072 |
2017 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.
|
7679115 |
1993 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
|
28389307 |
2017 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular cloning and characterization of the rat NMDA receptor.
|
1834949 |
1991 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The chromosome 9q subtelomere deletion syndrome.
|
17910072 |
2007 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The NMDA receptor as a target for cognitive enhancement.
|
22796429 |
2013 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for a tetrameric structure of recombinant NMDA receptors.
|
9526012 |
1998 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.
|
25838242 |
2015 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Functional insights from glutamate receptor ion channel structures.
|
22974439 |
2013 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
|
25864721 |
2015 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Overstimulation of NMDA receptors impairs early brain development in vivo.
|
22606296 |
2012 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The glutamate story.
|
16402093 |
2006 |
rs1554770046
|
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.
|
2516786 |
1989 |