TG c.625dup ;(p.H209Pfs*22)

Variant ID: 8-133885451-T-TC

NM_003235.4(TG):c.625dup;(p.H209Pfs*22)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 624dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Cold Spring Harbor Molecular Case Studies
Maciaszek, Jamie L JL; Oak, Ninad N; Chen, Wenan W; Hamilton, Kayla V KV; McGee, Rose B RB; Nuccio, Regina R; Mostafavi, Roya R; Hines-Dowell, Stacy S; Harrison, Lynn L; Taylor, Leslie L; Gerhardt, Elsie L EL; Ouma, Annastasia A; Edmonson, Michael N MN; Patel, Aman A; Nakitandwe, Joy J; Pappo, Alberto S AS; Azzato, Elizabeth M EM; Shurtleff, Sheila A SA; Ellison, David W DW; Downing, James R JR; Hudson, Melissa M MM; Robison, Leslie L LL; Santana, Victor V; Newman, Scott S; Zhang, Jinghui J; Wang, Zhaoming Z; Wu, Gang G; Nichols, Kim E KE; Kesserwan, Chimene A CA
Publication Date: 2019-10

Variant appearance in text: TG: 625dupC
PubMed Link: 31604778
Variant Present in the following documents:
  • supp_mcs.a004218_Supplemental_Tables.xlsx, sheet 7
View BVdb publication page



The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: TG: 624_625insC
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 9
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: 623_624insC
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page