Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P192fs
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VHL

NM_000551.4:p.P192fs

Associated Papers

Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.

Zengin ZB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34130999 (PubMed )
Supplement: 10780432ccr210572-sup-260633_2_supp_7138642_qtl5pw.xlsx › Supplementary_Table_1

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_4

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-4.xls › Sheet1
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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."