Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I180fs
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VHL

NM_000551.4:p.I180fs

Associated Papers

Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.

Tamura K et al.

Human Molecular Genetics, 2023

36905328 (PubMed )
Supplement: suple_tables_vhl_v6_0_ddad039.xlsx › Supple_Table1

Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.

William D et al.

Metabolites, 2021

34822422 (PubMed )
Supplement: metabolites-11-00764-s001.zip › Table_S1.zip › Table_S1.xlsx › Tabelle1

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf
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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."