Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L198delFs
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VHL

NM_000551.4:p.L198delFs

Associated Papers

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Jo KH et al.

Annals of Laboratory Medicine, 2024

39069753 (PubMed )
Supplement: alm-44-6-591-supple.pdf

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

Lee JS et al.

Bmc Medical Genetics, 2016

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S et al.

Journal of Human Genetics, 2014

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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."