Open AccessSystemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review
Author(s) -
Xueqing Li,
Xueshan Xiao,
Shi-Qiang Li,
Wenmin Sun,
Panfeng Wang,
Qingjiong Zhang
Publication year - 2021
Publication title -
asia-pacific journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.163
H-Index - 20
ISSN - 2162-0989
DOI - 10.1097/apo.0000000000000382
Subject(s) - genetics , exome sequencing , myocilin , biology , phenotype , missense mutation , genotype , exome , gene , open angle glaucoma , glaucoma , neuroscience
This study aims to characterize disease-causing variants in the myocilin gene (MYOC), which is associated with autosomal dominant primary open-angle glaucoma (adPOAG).