TG c.248dup ;(p.S83Rfs*28)

Variant ID: 8-133882044-A-AG

NM_003235.4(TG):c.248dup;(p.S83Rfs*28)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance.

Nature Communications
Cortés-López, Mariela M; Schulz, Laura L; Enculescu, Mihaela M; Paret, Claudia C; Spiekermann, Bea B; Quesnel-Vallières, Mathieu M; Torres-Diz, Manuel M; Unic, Sebastian S; Busch, Anke A; Orekhova, Anna A; Kuban, Monika M; Mesitov, Mikhail M; Mulorz, Miriam M MM; Shraim, Rawan R; Kielisch, Fridolin F; Faber, Jörg J; Barash, Yoseph Y; Thomas-Tikhonenko, Andrei A; Zarnack, Kathi K; Legewie, Stefan S; König, Julian J
Publication Date: 2022-09-22

Variant appearance in text: TG: 248dup
PubMed Link: 36138008
Variant Present in the following documents:
  • 41467_2022_31818_MOESM7_ESM.xlsx, sheet 3
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: 248dupG
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: TG: 248dupG
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Cell
Atanur, Santosh S SS; Diaz, Ana Garcia AG; Maratou, Klio K; Sarkis, Allison A; Rotival, Maxime M; Game, Laurence L; Tschannen, Michael R MR; Kaisaki, Pamela J PJ; Otto, Georg W GW; Ma, Man Chun John MC; Keane, Thomas M TM; Hummel, Oliver O; Saar, Kathrin K; Chen, Wei W; Guryev, Victor V; Gopalakrishnan, Kathirvel K; Garrett, Michael R MR; Joe, Bina B; Citterio, Lorena L; Bianchi, Giuseppe G; McBride, Martin M; Dominiczak, Anna A; Adams, David J DJ; Serikawa, Tadao T; Flicek, Paul P; Cuppen, Edwin E; Hubner, Norbert N; Petretto, Enrico E; Gauguier, Dominique D; Kwitek, Anne A; Jacob, Howard H; Aitman, Timothy J TJ
Publication Date: 2013-08-01

Variant appearance in text: TG: 248_249insG
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page