Publications:

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2020-11-18

Variant appearance in text: CREBBP: 4466C>T

PubMed Link: 33208384

Variant Present in the following documents:

• jmedgenet-2020-107385supp001.pdf

View BVdb publication page

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2022-02

Variant appearance in text: CREBBP: 4466C>T

PubMed Link: 33208384

Variant Present in the following documents:

• jmedgenet-2020-107385supp001.pdf

View BVdb publication page

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget

Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S

Publication Date: 2017-09-26

Variant appearance in text: CREBBP: P1489L

PubMed Link: 29088767

Variant Present in the following documents:

• oncotarget-08-74049-s002.xlsx, sheet 7

View BVdb publication page