TG c.264del ;(p.P89Lfs*17)

Variant ID: 8-133882059-CG-C

NM_003235.4(TG):c.264del;(p.P89Lfs*17)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: TG: 264delG
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM5_ESM.xlsx, sheet 1
  • 42003_2022_4087_MOESM5_ESM.xlsx, sheet 3
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
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Tamoxifen treatment ameliorates contractile dysfunction of Duchenne muscular dystrophy stem cell-derived cardiomyocytes on bioengineered substrates.

Npj Regenerative Medicine
Birnbaum, Foster F; Eguchi, Asuka A; Pardon, Gaspard G; Chang, Alex C Y ACY; Blau, Helen M HM
Publication Date: 2022-03-18

Variant appearance in text: TG: 263delG
PubMed Link: 35304486
Variant Present in the following documents:
  • 41536_2022_Article_214.pdf
View BVdb publication page



Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Human Mutation
Sarafrazi, Soodabeh S; Daugherty, Sean C SC; Miller, Nicole N; Boada, Patrick P; Carpenter, Thomas O TO; Chunn, Lauren L; Dill, Kariena K; Econs, Michael J MJ; Eisenbeis, Scott S; Imel, Erik A EA; Johnson, Britt B; Kiel, Mark J MJ; Krolczyk, Stan S; Ramesan, Prameela P; Truty, Rebecca R; Sabbagh, Yves Y
Publication Date: 2022-02

Variant appearance in text: TG: 264delG
PubMed Link: 34806794
Variant Present in the following documents:
  • HUMU-43-143-s001.xlsx, sheet 1
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: TG: 264delG
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
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: 264delG
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page