rs199476083
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906803
|
MUSK;LOC107987115
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs397515450
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs766640370
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs551423795
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs756877019
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs879255561
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
AC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199476083
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
MUSK, a new target for mutations causing congenital myasthenic syndrome.
|
15496425 |
2004 |
rs387906803
|
MUSK;LOC107987115
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
MUSK, a new target for mutations causing congenital myasthenic syndrome.
|
15496425 |
2004 |
rs397515450
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
MUSK, a new target for mutations causing congenital myasthenic syndrome.
|
15496425 |
2004 |
rs766640370
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
MUSK, a new target for mutations causing congenital myasthenic syndrome.
|
15496425 |
2004 |
rs775587809
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
GeneticVariation |
UNIPROT |
MUSK, a new target for mutations causing congenital myasthenic syndrome.
|
15496425 |
2004 |
rs199476083
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
|
19949040 |
2009 |
rs387906803
|
MUSK;LOC107987115
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
|
19949040 |
2009 |
rs397515450
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
|
19949040 |
2009 |
rs766640370
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
|
19949040 |
2009 |
rs775587809
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
GeneticVariation |
UNIPROT |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
|
19949040 |
2009 |
rs199476083
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
|
20371544 |
2010 |
rs387906803
|
MUSK;LOC107987115
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
|
20371544 |
2010 |
rs397515450
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
|
20371544 |
2010 |
rs766640370
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
|
20371544 |
2010 |
rs775587809
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
|
20371544 |
2010 |
rs199476083
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
|
23326516 |
2013 |
rs387906803
|
MUSK;LOC107987115
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
|
23326516 |
2013 |
rs397515450
|
Entrez Id: |
4593 |
Gene Symbol: |
MUSK |
MUSK
|
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
|
23326516 |
2013 |