rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
|
16931511 |
2006 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
|
15328566 |
2004 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
|
15036330 |
2004 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
rs104894293
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
|
15328566 |
2004 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
|
16931511 |
2006 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
|
15036330 |
2004 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
rs104894294
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
Myopathy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs104894299
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
T |
0.800 |
CausalMutation |
CLINVAR |
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
|
15286164 |
2004 |
rs104894299
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
T |
0.800 |
CausalMutation |
CLINVAR |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
rs104894299
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
rs104894299
|
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
|
15328566 |
2004 |