rs72559716
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
|
30352420 |
2018 |
rs372307320
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
|
28442472 |
2017 |
rs139964066
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.
|
27682711 |
2016 |
rs200670692
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
|
27573238 |
2016 |
rs372307320
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
|
25639667 |
2016 |
rs72559734
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical whole exome sequencing in early onset diabetes patients.
|
27810688 |
2016 |
rs797045213
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
|
25639667 |
2016 |
rs137852671
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs137852671
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs137852672
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs137852672
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs139964066
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs139964066
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
|
26180531 |
2015 |
rs139964066
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
|
25781672 |
2015 |
rs139964066
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs1446306735
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs1446306735
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs1446306735
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs1554933168
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs1554933168
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs200670692
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs200670692
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
|
26740944 |
2015 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.
|
25518065 |
2015 |