ABCA4 c.6537del ;(p.P2180Lfs*3)

Variant ID: 1-94463608-GA-G

NM_000350.2(ABCA4):c.6537del;(p.P2180Lfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S
Publication Date: 2017-07

Variant appearance in text: ABCA4: 6537del
PubMed Link: 28365912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Analysis of Retinal Flecks in Stargardt Disease.

Journal Of Clinical & Experimental Ophthalmology
Verdina, Tommaso T; Tsang, Stephen H SH; Greenstein, Vivienne C VC; Zernant, Jana J; Sodi, Andrea A; Lima, Luiz H LH; Chang, Stanley S; Allikmets, Rando R; Menchini, Ugo U
Publication Date: 2012-07-30

Variant appearance in text: ABCA4: 6537del
PubMed Link: 24409374
Variant Present in the following documents:
  • Main text
  • nihms535866.pdf
View BVdb publication page