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Article

Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.

Translational vision science & technology - 2 Mar 2022

Matynia Anna, Wang Jun, Kim Sangbae, Li Yumei, Dimashkie Anupama, Jiang Zhichun, Hu Jane, Strom Samuel P, Radu Roxana A, Chen Rui, Gorin Michael B

Abstract excerpt

Purpose: Modern molecular genetics has revolutionized gene discovery, genetic diagnoses, and precision medicine yet many patients remain unable to benefit from these advances as disease-causing variants remain elusive for up to half of Mendelian genetic disorders. Patient-derived induced pluripotent stem (iPS) cells and transcriptomics were used to identify the fate of unsolved ABCA4 alleles in patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35348597
DOI: 10.1167/tvst.11.3.33
PMCID: PMC8976924

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