rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
|
28868593 |
2017 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
|
28868593 |
2017 |
rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
|
25208612 |
2014 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
|
25208612 |
2014 |
rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
|
23266196 |
2013 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
|
23266196 |
2013 |
rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
|
22415731 |
2012 |
rs766413410
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
|
22284826 |
2012 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
|
22415731 |
2012 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
|
22284826 |
2012 |
rs777096695
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |