TG c.1048dup ;(p.R350Pfs*11)

Variant ID: 8-133895214-A-AC

NM_003235.4(TG):c.1048dup;(p.R350Pfs*11)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Frontiers In Molecular Neuroscience
Vilela, Joana J; Martiniano, Hugo H; Marques, Ana Rita AR; Santos, João Xavier JX; Rasga, Célia C; Oliveira, Guiomar G; Vicente, Astrid Moura AM
Publication Date: 2022

Variant appearance in text: TG: 1047dupC
PubMed Link: 36061363
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 1046dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14

Variant appearance in text: TG: 1046dup
PubMed Link: 32929070
Variant Present in the following documents:
  • 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Publication Date: 2020-02

Variant appearance in text: TG: 1048dup
PubMed Link: 31810826
Variant Present in the following documents:
  • NIHMS1067362-supplement-Supplement.pdf
View BVdb publication page