NOTCH1 c.247_249delinsTGT ;(p.A83C)

Variant ID: 9-139418323-TGC-ACA

NM_017617.3(NOTCH1):c.247_249delinsTGT;(p.A83C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Posttranslational Regulation of the Exon Skipping Machinery Controls Aberrant Splicing in Leukemia.

Cancer Discovery
Zhou, Yalu Y; Han, Cuijuan C; Wang, Eric E; Lorch, Adam H AH; Serafin, Valentina V; Cho, Byoung-Kyu BK; Gutierrez Diaz, Blanca T BT; Calvo, Julien J; Fang, Celestia C; Khodadadi-Jamayran, Alireza A; Tabaglio, Tommaso T; Marier, Christian C; Kuchmiy, Anna A; Sun, Limin L; Yacu, George G; Filip, Szymon K SK; Jin, Qi Q; Takahashi, Yoh-Hei YH; Amici, David R DR; Rendleman, Emily J EJ; Rawat, Radhika R; Bresolin, Silvia S; Paganin, Maddalena M; Zhang, Cheng C; Li, Hu H; Kandela, Irawati I; Politanska, Yuliya Y; Abdala-Valencia, Hiam H; Mendillo, Marc L ML; Zhu, Ping P; Palhais, Bruno B; Van Vlierberghe, Pieter P; Taghon, Tom T; Aifantis, Iannis I; Goo, Young Ah YA; Guccione, Ernesto E; Heguy, Adriana A; Tsirigos, Aristotelis A; Wee, Keng Boon KB; Mishra, Rama K RK; Pflumio, Francoise F; Accordi, Benedetta B; Basso, Giuseppe G; Ntziachristos, Panagiotis P
Publication Date: 2020-09

Variant appearance in text: NOTCH1: A83C
PubMed Link: 32444465
Variant Present in the following documents:
  • Main text
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