Publications:

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Investigative Ophthalmology & Visual Science

Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2022-05-02

Variant appearance in text: ABCA4: 4555delA; Thr1519Argfs

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

View BVdb publication page

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: 4555delA

PubMed Link: 33608557

Variant Present in the following documents:

• 41525_2021_180_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

Plos One

Xin, Wei W; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Guo, Xiangming X; Zhang, Qingjiong Q

Publication Date: 2015

Variant appearance in text: ABCA4: 4555delA

PubMed Link: 26161775

Variant Present in the following documents:

• Main text
• pone.0132635.pdf

View BVdb publication page