The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

Item
http://www.wikidata.org/entity/Q53634962
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.
P2860

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

Item
http://www.wikidata.org/entity/Q53634962
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
The von Hippel-Lindau (VHL) ge ...... et bilateral pheochromocytoma.
@en
type
label
The von Hippel-Lindau (VHL) ge ...... et bilateral pheochromocytoma.
@en
prefLabel
The von Hippel-Lindau (VHL) ge ...... et bilateral pheochromocytoma.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
The von Hippel-Lindau (VHL) ge ...... et bilateral pheochromocytoma.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921