Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q203P
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VHL

NM_000551.4:p.Q203P

Associated Papers

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted

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."