Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D9N
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VHL

NM_000551.4:p.D9N

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

The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation.

Gundabolu K et al.

Case Reports in Genetics, 2022

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

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s007.xlsx › Unweighted_ClinVar_Muts

Plasmacytoid acinar adenocarcinoma of the prostate: a newly described variant of prostate cancer.

Al-Hussain T et al.

Human Pathology, 2019

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

Taylor C et al.

International Journal of Oncology, 2012

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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."