Publications:

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R

Publication Date: 2015-04

Variant appearance in text: ABCA4: 2458C>T

PubMed Link: 25474345

Variant Present in the following documents:

• Main text
• nihms-641971.pdf

View BVdb publication page