CREBBP c.283G>T ;(p.V95L)

Variant ID: 16-3900813-C-A

NM_004380.2(CREBBP):c.283G>T;(p.V95L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distinct molecular profile of diffuse cerebellar gliomas.

Acta Neuropathologica
Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N
Publication Date: 2017-12

Variant appearance in text: CREBBP: V95L
PubMed Link: 28852847
Variant Present in the following documents:
  • 401_2017_1771_MOESM2_ESM.xlsx, sheet 7
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Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing.

Neuro-Oncology
Franceschi, Sara S; Lessi, Francesca F; Aretini, Paolo P; Mazzanti, Chiara M CM; Menicagli, Michele M; La Ferla, Marco M; De Gregorio, Veronica V; Caramella, Davide D; Naccarato, Antonio G AG; Bevilacqua, Generoso G; Bonadio, Angelo G AG; Pasqualetti, Francesco F
Publication Date: 2016-02

Variant appearance in text: CREBBP: V95L
PubMed Link: 26803811
Variant Present in the following documents:
  • Main text
View BVdb publication page