Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc
Back to variants list

VHL

NM_000551.4:p.V155Splc

Associated Papers

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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

Kim E et al.

Molecular Genetics and Metabolism Reports, 2017

28070496 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms.

Klingler JH et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2013

Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

Dandanell M et al.

Bmc Medical Genetics, 2012

Abstracts of the 8th International Symposium on von Hippel-Lindau Disease. September 4-6, 2008. Roskilde, Denmark.

Unknown Author

Familial Cancer, 2008

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."