GC c.394_396del ;(p.E132del)

Variant ID: 4-72631226-ATTC-A

NM_000583.3(GC):c.394_396del;(p.E132del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children.

The Journal Of Clinical Investigation
Benamar, Mehdi M; Chen, Qian Q; Chou, Janet J; Julé, Amélie M AM; Boudra, Rafik R; Contini, Paola P; Crestani, Elena E; Lai, Peggy S PS; Wang, Muyun M; Fong, Jason J; Rockwitz, Shira S; Lee, Pui Y PY; Chan, Tsz Man Fion TMF; Altun, Ekin Zeynep EZ; Kepenekli, Eda E; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Boran, Perran P; Aygun, Fatih F; Önal, Pınar P; Kilinc Sakalli, Ayse Ayzit AA; Cokugras, Haluk H; Gelmez, Metin Yusuf MY; Oktelik, Fatma B FB; Cetin Aktas, Esin E; Zhong, Yuelin Y; Taylor, Maria L ML; Irby, Katherine K; Halasa, Natasha B NB; Mack, Elizabeth H EH; Signa, Sara S; Prigione, Ignazia I; Gattorno, Marco M; Cotugno, Nicola N; Amodio, Donato D; Geha, Raif S RS; Son, Mary Beth MB; Newburger, Jane W JW; Agrawal, Pankaj B PB; Volpi, Stefano S; Palma, Paolo P; Kiykim, Ayca A; Randolph, Adrienne A; Deniz, Gunnur G; Baris, Safa S; De Palma, Raffaele R; Schmitz-Abe, Klaus K; Charbonnier, Louis-Marie LM; Henderson, Lauren A LA; Chatila, Talal A TA
Publication Date: 2022-10-25

Variant appearance in text: GC: 394_396del
PubMed Link: 36282598
Variant Present in the following documents:
  • jci-133-163235-s083.xlsx, sheet 1
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: GC: 394_396del
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



HFE p.H63D polymorphism does not influence ALS phenotype and survival.

Neurobiology Of Aging
Chiò, Adriano A; Mora, Gabriele G; Sabatelli, Mario M; Caponnetto, Claudia C; Lunetta, Christian C; Traynor, Bryan J BJ; Johnson, Janel O JO; Nalls, Mike A MA; Calvo, Andrea A; Moglia, Cristina C; Borghero, Giuseppe G; Monsurrò, Maria Rosaria MR; La Bella, Vincenzo V; Volanti, Paolo P; Simone, Isabella I; Salvi, Fabrizio F; Logullo, Francesco O FO; Nilo, Riva R; Giannini, Fabio F; Mandrioli, Jessica J; Tanel, Raffaella R; Murru, Maria Rita MR; Mandich, Paola P; Zollino, Marcella M; Conforti, Francesca L FL; Penco, Silvana S; , ; , ; Brunetti, Maura M; Barberis, Marco M; Restagno, Gabriella G
Publication Date: 2015-10

Variant appearance in text: GC: E132del
PubMed Link: 26174855
Variant Present in the following documents:
  • Main text
View BVdb publication page