ABCA4 c.3017G>A ;(p.G1006D)

Variant ID: 1-94510202-C-T

NM_000350.2(ABCA4):c.3017G>A;(p.G1006D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics
Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH
Publication Date: 2020-10-31

Variant appearance in text: ABCA4: Gly1006Asp
PubMed Link: 33129279
Variant Present in the following documents:
  • Main text
  • 12881_2020_1152_MOESM2_ESM.xls, sheet 1
  • 12881_2020_Article_1152.pdf
View BVdb publication page