TG c.517dup ;(p.H173Pfs*6)

Variant ID: 8-133885343-T-TC

NM_003235.4(TG):c.517dup;(p.H173Pfs*6)

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: 516dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19

Variant appearance in text: TG: 516dup
PubMed Link: 31744508
Variant Present in the following documents:
  • 13045_2019_802_MOESM6_ESM.xlsx, sheet 3
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: 516_517insC
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 5
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: 516dupC
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page