ABCA4 c.1372C>T ;(p.P458S)

Variant ID: 1-94543428-G-A

NM_000350.2(ABCA4):c.1372C>T;(p.P458S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics
Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2019

Variant appearance in text: STGD1: 1372C>T
PubMed Link: 31543898
Variant Present in the following documents:
  • Main text
  • fgene-10-00773.pdf
  • Table_3.xls, sheet 1
  • Table_2.xls, sheet 1
View BVdb publication page