Publications:

NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: DMD: 1510C>T; Q504*

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics

Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L

Publication Date: 2019-08-14

Variant appearance in text: DMD: 1510C>T; Gln504*

PubMed Link: 31412794

Variant Present in the following documents:

• Main text
• 12881_2019_Article_873.pdf

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 1510C>T; Gln504X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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