Open AccessAssessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients
Author(s) -
Anna Matynia,
Jun Wang,
Sangbae Kim,
Yumei Li,
Anupama Dimashkie,
ZhongXing Jiang,
Jane Hu,
Samuel P. Strom,
Roxana A. Radu,
Rui Chen,
Michael B. Gorin
Publication year - 2022
Publication title -
translational vision science and technology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.508
H-Index - 21
ISSN - 2164-2591
DOI - 10.1167/tvst.11.3.33
Subject(s) - stargardt disease , abca4 , transcriptome , biology , genetics , allele , disease , missense mutation , phenotype , retinal pigment epithelium , gene , computational biology , retinal , bioinformatics , gene expression , medicine , pathology , biochemistry