Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E186G
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VHL

NM_000551.4:p.E186G

Associated Papers

Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease.

Kreusel KM et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2007

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

Klein B et al.

Human Genetics, 2001

Retinal angiomatosis and von Hippel-Lindau disease.

Kreusel KM et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2000

The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

Gläsker S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 1999

[Retinal capillary angioma. Clinical and molecular genetic studies].

Kreusel KM et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."