Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
| Autor: | 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 |
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| Zdroj: | Human Molecular Genetics; 8/15/2024, Vol. 33 Issue 16, p1379-1390, 12p |
| Databáze: | Complementary Index |
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