ABCA4 c.3237T>C ;(p.D1079=)

Variant ID: 1-94508408-A-G

NM_000350.2(ABCA4):c.3237T>C;(p.D1079=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Scientific Reports
Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK
Publication Date: 2020-10-05

Variant appearance in text: STGD1: 3237T>C
PubMed Link: 33020556
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_73339.pdf
View BVdb publication page