Publications:

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: CREBBP: W1686X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Molecular Genetics & Genomic Medicine

Pérez-Grijalba, Virginia V; García-Oguiza, Alberto A; López, María M; Armstrong, Judith J; García-Miñaur, Sixto S; Mesa-Latorre, Jose María JM; O'Callaghan, Mar M; Pineda Marfa, Mercé M; Ramos-Arroyo, Maria Antonia MA; Santos-Simarro, Fernando F; Seidel, Verónica V; Domínguez-Garrido, Elena E

Publication Date: 2019-11

Variant appearance in text: CREBBP: 5058G>A

PubMed Link: 31566936

Variant Present in the following documents:

• Main text
• MGG3-7-e972.pdf

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