|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
|
22799452 |
2012 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.
|
21463266 |
2011 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
|
19602254 |
2009 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
|
19252526 |
2009 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
|
10567493 |
1999 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
|
8956040 |
1996 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
|
8730290 |
1996 |
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |