TG c.2959C>T ;(p.L987=)

Variant ID: 8-133906132-C-T

NM_003235.4(TG):c.2959C>T;(p.L987=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: TG: 2959C>T
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Werner syndrome presenting as early-onset diabetes: A case report.

Journal Of Diabetes Investigation
Wang, Xiaoli X; Liu, Siruo S; Qin, Fengye F; Liu, Qian Q; Wang, Qiuyue Q
Publication Date: 2022-03

Variant appearance in text: TG: 2959C>T
PubMed Link: 34564935
Variant Present in the following documents:
  • Main text
  • JDI-13-592.pdf
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: TG: 2959C>T
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications
Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP
Publication Date: 2020-02

Variant appearance in text: TG: 2959C>T; Leu987Leu
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.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: 2959C>T
PubMed Link: 31604778
Variant Present in the following documents:
  • supp_mcs.a004218_Supplemental_Tables.xlsx, sheet 7
View BVdb publication page



Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genetic Testing And Molecular Biomarkers
Bartels, Cynthia F CF; Scacheri, Cheryl C; White, Lashonda L; Scacheri, Peter C PC; Bale, Sherri S
Publication Date: 2010-12

Variant appearance in text: TG: 2959C>T
PubMed Link: 21158681
Variant Present in the following documents:
  • Main text
View BVdb publication page