Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E17K
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VHL

NM_000551.4:p.E17K

Associated Papers

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

Mining mutation contexts across the cancer genome to map tumor site of origin.

Chakraborty S et al.

Nature Communications, 2021

34031376 (PubMed )
Supplement: 41467_2021_23094_MOESM1_ESM.pdf

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities.

Vahidnezhad H et al.

The Journal of Investigative Dermatology, 2016

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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."