Publications:

The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.

Npj Breast Cancer

De Mattos-Arruda, Leticia L; Cortes, Javier J; Blanco-Heredia, Juan J; Tiezzi, Daniel G DG; Villacampa, Guillermo G; Gonçalves-Ribeiro, Samuel S; Paré, Laia L; Souza, Carla Anjos CA; Ortega, Vanesa V; Sammut, Stephen-John SJ; Cusco, Pol P; Fasani, Roberta R; Chin, Suet-Feung SF; Perez-Garcia, Jose J; Dienstmann, Rodrigo R; Nuciforo, Paolo P; Villagrasa, Patricia P; Rubio, Isabel T IT; Prat, Aleix A; Caldas, Carlos C

Publication Date: 2021-06-07

Variant appearance in text: NF1: S1078Hfs*3

PubMed Link: 34099718

Variant Present in the following documents:

• 41523_2021_282_MOESM1_ESM.xlsx, sheet 1

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Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg

Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I

Publication Date: 2017-06-30

Variant appearance in text: NF1: 3230_3230delT; Ser1078Hisfs*3

PubMed Link: 28924536

Variant Present in the following documents:

• Main text
• bjmg-20-013.pdf

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Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

The Journal Of Clinical Endocrinology And Metabolism

Welander, Jenny J; Andreasson, Adam A; Juhlin, C Christofer CC; Wiseman, Roger W RW; Bäckdahl, Martin M; Höög, Anders A; Larsson, Catharina C; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2014-07

Variant appearance in text: NF1: 3232delT

PubMed Link: 24694336

Variant Present in the following documents:

• Main text

View BVdb publication page