GPATCH2L c.1053-65C>T

Variant ID: 14-76644266-C-T

NM_017926.2(GPATCH2L):c.1053-65C>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data.

Bmc Cancer
Fernández-Navarro, Pablo P; López-Nieva, Pilar P; Piñeiro-Yañez, Elena E; Carreño-Tarragona, Gonzalo G; Martinez-López, Joaquín J; Sánchez Pérez, Raúl R; Aroca, Ángel Á; Al-Shahrour, Fátima F; Cobos-Fernández, María Ángeles MÁ; Fernández-Piqueras, José J
Publication Date: 2019-10-26

Variant appearance in text: rs117516637
PubMed Link: 31655559
Variant Present in the following documents:
  • 12885_2019_6209_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs117516637
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: rs117516637
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Genome Biology
Jansen, Iris E IE; Ye, Hui H; Heetveld, Sasja S; Lechler, Marie C MC; Michels, Helen H; Seinstra, Renée I RI; Lubbe, Steven J SJ; Drouet, Valérie V; Lesage, Suzanne S; Majounie, Elisa E; Gibbs, J Raphael JR; Nalls, Mike A MA; Ryten, Mina M; Botia, Juan A JA; Vandrovcova, Jana J; Simon-Sanchez, Javier J; Castillo-Lizardo, Melissa M; Rizzu, Patrizia P; Blauwendraat, Cornelis C; Chouhan, Amit K AK; Li, Yarong Y; Yogi, Puja P; Amin, Najaf N; van Duijn, Cornelia M CM; , ; Morris, Huw R HR; Brice, Alexis A; Singleton, Andrew B AB; David, Della C DC; Nollen, Ellen A EA; Jain, Shushant S; Shulman, Joshua M JM; Heutink, Peter P
Publication Date: 2017-01-30

Variant appearance in text: rs117516637
PubMed Link: 28137300
Variant Present in the following documents:
  • Main text
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs117516637
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 10
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs117516637
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Plos Genetics
Alsalem, Ahmed B AB; Halees, Anason S AS; Anazi, Shamsa S; Alshamekh, Shomoukh S; Alkuraya, Fowzan S FS
Publication Date: 2013

Variant appearance in text: rs117516637
PubMed Link: 24367280
Variant Present in the following documents:
  • pgen.1004030.s004.xlsx, sheet 1
View BVdb publication page