ABCA4 c.310A>T ;(p.R104W)

Variant ID: 1-94574265-T-A

NM_000350.2(ABCA4):c.310A>T;(p.R104W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: ABCA4: 310A>T; R104W
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multimodal imaging in hereditary retinal diseases.

Journal Of Ophthalmology
Pichi, Francesco F; Morara, Mariachiara M; Veronese, Chiara C; Nucci, Paolo P; Ciardella, Antonio P AP
Publication Date: 2013

Variant appearance in text: ABCA4: Arg104Trp
PubMed Link: 23710333
Variant Present in the following documents:
  • Main text
  • JOP2013-634351.pdf
View BVdb publication page