ABCA4 c.1553A>C ;(p.E518A)

Variant ID: 1-94543247-T-G

NM_000350.2(ABCA4):c.1553A>C;(p.E518A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Evaluation of Local Rod and Cone Function in Stargardt Disease.

Investigative Ophthalmology & Visual Science
Stingl, Krunoslav K; Hoyng, Carel C; Kempf, Melanie M; Kohl, Susanne S; Jung, Ronja R; Righetti, Giulia G; Kühlewein, Laura L; Pohl, Lisa L; Kortüm, Friederike F; Kelbsch, Carina C; Wilhelm, Barbara B; Peters, Tobias T; Stingl, Katarina K; ,
Publication Date: 2022-03-02

Variant appearance in text: ABCA4: 1553A>C
PubMed Link: 35262734
Variant Present in the following documents:
  • Main text
  • iovs-63-3-6.pdf
View BVdb publication page