ABCA4 c.4537C>G ;(p.Q1513E)

Variant ID: 1-94495003-G-C

NM_000350.2(ABCA4):c.4537C>G;(p.Q1513E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

American Journal Of Ophthalmology
Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P
Publication Date: 2019-06

Variant appearance in text: ABCA4: 4537C>G
PubMed Link: 30771335
Variant Present in the following documents:
  • Main text
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