Publications:

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine

Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL

Publication Date: 2021-02-19

Variant appearance in text: ABCA4: 6722T>C; Leu2241Pro

PubMed Link: 33608557

Variant Present in the following documents:

• 41525_2021_180_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Bioscience Reports

Xiang, Qin Q; Cao, Yanna Y; Xu, Hongbo H; Guo, Yi Y; Yang, Zhijian Z; Xu, Lu L; Yuan, Lamei L; Deng, Hao H

Publication Date: 2019-01-31

Variant appearance in text: ABCA4: 6722T>C

PubMed Link: 30563929

Variant Present in the following documents:

• Main text
• bsr-39-bsr20180872.pdf

View BVdb publication page