Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N150S
Back to variants list

VHL

NM_000551.4:p.N150S

Associated Papers

Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.

Knoblauch AL et al.

Journal of Neuro-oncology, 2024

38647646 (PubMed )
Supplement: 11060_2024_4676_MOESM1_ESM.pdf

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Mougel G et al.

Journal of Medical Genetics, 2024

Characterization of novel low passage primary and metastatic colorectal cancer cell lines.

Boot A et al.

Oncotarget, 2016

Novel mutations in the von Hippel-Lindau gene associated with congenital polycythemia.

Sidhu A et al.

Pediatric Blood & Cancer, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."