Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants

Xu, XY; Wang, PF; Jia, XY; Sun, WM; Li, SQ; Xiao, XS; Hejtmancik, JF; Zhang, QJ

Zhang, QJ (corresponding author), Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Pediat & Genet Eye Clin, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou 510060, Peoples R China.

MOLECULAR GENETICS AND GENOMICS, 2021; 296 (4): 845

Abstract

Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. About 60-90% of ADOA is c......

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