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Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

Authors :
Burnight, Erin R
Fenner, Beau J
Han, Ian C
DeLuca, Adam P
Whitmore, S Scott
Bohrer, Laura R
Andorf, Jeaneen L
Sohn, Elliott H
Mullins, Robert F
Tucker, Budd A
Stone, Edwin M
Source :
Human Molecular Genetics; 8/15/2024, Vol. 33 Issue 16, p1379-1390, 12p
Publication Year :
2024

Details

Language :
English
ISSN :
09646906
Volume :
33
Issue :
16
Database :
Complementary Index
Journal :
Human Molecular Genetics
Publication Type :
Academic Journal
Accession number :
178887746
Full Text :
https://doi.org/10.1093/hmg/ddad176