TG c.710del ;(p.C237Lfs*165)

Variant ID: 8-133894179-TG-T

NM_003235.4(TG):c.710del;(p.C237Lfs*165)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: TG: 710delG
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: TG: 710_710delG
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.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: 710delG
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

Bmc Ophthalmology
Neethirajan, Guruswamy G; Nallathambi, Jeyabalan J; Krishnadas, Subbaiah Ramasamy SR; Vijayalakshmi, Perumalsamy P; Shashikanth, Shetty S; Collinson, Jon Martin JM; Sundaresan, Periasamy P
Publication Date: 2006-06-27

Variant appearance in text: TG: 710del
PubMed Link: 16803629
Variant Present in the following documents:
  • Main text
  • 1471-2415-6-28.pdf
View BVdb publication page