Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I75insFs
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VHL

NM_000551.4:p.I75insFs

Associated Papers

von Hippel-Lindau development in children and adolescents.

Launbjerg K et al.

American Journal of Medical Genetics. Part A, 2017

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

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Cho HJ et al.

Journal of Korean Medical Science, 2009

Pancreatic involvement in Korean patients with von Hippel-Lindau disease.

Lee KH et al.

Journal of Gastroenterology, 2009

Spinal cord hemangioblastoma : diagnosis and clinical outcome after surgical treatment.

Na JH et al.

Journal of Korean Neurosurgical Society, 2007

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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."