Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q203fs
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VHL

NM_000551.4:p.Q203fs

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST4

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

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Garrelfs MR et al.

Pediatric Neurology, 2020

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

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-7.xls › Renal4000Followup_context
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