Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is

Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is significant phenotypic variability and genetic variants encountered within this syndrome, posing a considerable challenge to patient care. The lack of VHL...

Descripción completa

Detalles Bibliográficos
Autores principales: Salehipour, Dena, Farncombe, Kirsten M, Andric, Veronica, Ansar, Safa, Delong, Sean, Li, Eric, Macpherson, Samantha, Ridd, Sarah, Ritter, Deborah I, Thaxton, Courtney, Kim, Raymond H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825735/
https://www.ncbi.nlm.nih.gov/pubmed/36617168
http://dx.doi.org/10.1093/database/baac109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825735/
https://www.ncbi.nlm.nih.gov/pubmed/36617168
http://dx.doi.org/10.1093/database/baac109

Ejemplares similares