Publications:

Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Molecular Oncology

Nørøxe, Dorte S DS; Yde, Christina W CW; Østrup, Olga O; Michaelsen, Signe R SR; Schmidt, Ane Y AY; Kinalis, Savvas S; Torp, Mathias H MH; Skjøth-Rasmussen, Jane J; Brennum, Jannick J; Hamerlik, Petra P; Poulsen, Hans S HS; Nielsen, Finn C FC; Lassen, Ulrik U

Publication Date: 2020-11

Variant appearance in text: NF1: 1888delG; V630*

PubMed Link: 32885540

Variant Present in the following documents:

• MOL2-14-2727-s001.pdf

View BVdb publication page

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 1888delG; Val630X

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

View BVdb publication page

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

European Journal Of Human Genetics : Ejhg

Thomas, Laura L; Spurlock, Gill G; Eudall, Claire C; Thomas, Nick S NS; Mort, Matthew M; Hamby, Stephen E SE; Chuzhanova, Nadia N; Brems, Hilde H; Legius, Eric E; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2012-04

Variant appearance in text: NF1: 1888delG; V630fs

PubMed Link: 22108604

Variant Present in the following documents:

• Main text

View BVdb publication page