ABCA4 c.2829G>T ;(p.R943=)

Variant ID: 1-94512564-C-A

NM_000350.2(ABCA4):c.2829G>T;(p.R943=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patient-derived xenografts and organoids model therapy response in prostate cancer.

Nature Communications
Karkampouna, Sofia S; La Manna, Federico F; Benjak, Andrej A; Kiener, Mirjam M; De Menna, Marta M; Zoni, Eugenio E; Grosjean, Joël J; Klima, Irena I; Garofoli, Andrea A; Bolis, Marco M; Vallerga, Arianna A; Theurillat, Jean-Philippe JP; De Filippo, Maria R MR; Genitsch, Vera V; Keller, David D; Booij, Tijmen H TH; Stirnimann, Christian U CU; Eng, Kenneth K; Sboner, Andrea A; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Gray, Peter C PC; Spahn, Martin M; Rubin, Mark A MA; Thalmann, George N GN; Kruithof-de Julio, Marianna M
Publication Date: 2021-02-18

Variant appearance in text: ABCA4: Arg943Arg
PubMed Link: 33602919
Variant Present in the following documents:
  • 41467_2021_21300_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: ABCA4: R943R
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page