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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETD2

Variant:p.L417_S418insT

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SETD2

NM_014159.7:p.L417_S418insT

hg38:chr3:47123387 A>ANNN

Associated Papers

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

25078357 (PubMed )

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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."