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. 2026 Jun 23;17(7):728. doi: 10.3390/genes17070728
FAF Fundus autofluorescence
CADD Combined annotation-dependent duplication
CNV Copy Number Variant
ECD Exocytoplasmic domain
EDT Electrodiagnostic testing
MLPA Multiplex ligation-dependent probe amplification
NGS Next-Generation Sequencing
NBD Nucleotide-binding domain
NMD Nonsense-mediated decay
SD-OCT Spectral-domain optical coherent tomography
Sm-MIPs Single-molecule molecular inversion probes
Stargardt disease STGD1
TMD Transmembrane domain
SIFT Sorting Intolerant from Tolerance
ISCEV International Society for Clinical Electrophysiology of Vision