Open AccessPhenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations
Author(s) -
Lu Tian,
Chunjie Chen,
Yuning Song,
Xiaohui Zhang,
Ke Xu,
Yue Xie,
ZiBing Jin,
Yang Li
Publication year - 2022
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.63.6.5
Subject(s) - abca4 , copy number variation , genetics , biology , missing heritability problem , heritability , breakpoint , phenotype , gene , genotype , single nucleotide polymorphism , chromosomal translocation , genome