Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc
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VHL

NM_000551.4:p.V155Splc

Associated Papers

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

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

The incidence of consecutive manifestations in Von Hippel-Lindau disease.

van der Horst-Schrivers ANA et al.

Familial Cancer, 2019

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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."