Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I151V
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VHL

NM_000551.4:p.I151V

Associated Papers

Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood - A Long-term Follow-up of 5 Patients with vHL from One Family.

Pasternak-Pietrzak K et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

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_Unweighted

The clinical utility of circulating neuroendocrine gene transcript analysis in well-differentiated paragangliomas and pheochromocytomas.

Pęczkowska M et al.

European Journal of Endocrinology, 2017

Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.

Assadi F et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003

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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."