Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc
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VHL

NM_000551.4:p.V155Splc

Associated Papers

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.

Koeller DR et al.

Cancers, 2025

Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.

Li L et al.

Molecular Diagnosis & Therapy, 2023

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Zhang K et al.

Journal of Medical Genetics, 2022

34916234 (PubMed )
Supplement: jmedgenet-2021-108216supp006.pdf

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL

Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Yoshikawa Y et al.

Cancer Science, 2022

34687579 (PubMed )
Supplement: CAS-113-297-s001.xlsx › Table_S3

VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.

Li Y et al.

Frontiers in Neurology, 2022

Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.

Liu Z et al.

Bmc Medical Genetics, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.

Hong B et al.

Clinical Genitourinary Cancer, 2019

von Hippel-Lindau development in children and adolescents.

Launbjerg K et al.

American Journal of Medical Genetics. Part A, 2017

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

Gomy I et al.

Familial Cancer, 2010

Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

Patard JJ et al.

British Journal of Cancer, 2009

19755989 (PubMed )
Supplement: 6605298x1.xls › DATA_VHL_
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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."