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 |
rs201682634
|
|
|
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 |
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia.
|
24645945 |
2014 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
|
25201519 |
2014 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.
|
23744072 |
2013 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2.
|
21321069 |
2011 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism.
|
20432820 |
2010 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
|
19151370 |
2009 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
|
17575084 |
2007 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
|
16357843 |
2006 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
|
16429405 |
2006 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
|
16429405 |
2006 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
|
15562009 |
2005 |
rs201682634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.
|
14692646 |
2004 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
|
15579781 |
2004 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
|
12941782 |
2003 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
|
12364426 |
2002 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
|
11867634 |
2002 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
|
11226335 |
2001 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
|
10615958 |
2000 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
|
11018078 |
2000 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical features of 52 neonates with hyperinsulinism.
|
10202168 |
1999 |
rs201682634
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
|
10334322 |
1999 |