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Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy

2025-09-02

Abstract excerpt

<h4> Abstract </h4> While diagnostic disparities by race and age of onset are reported in inherited retinal diseases, their impact on Stargardt disease (STGD)—a clinically and genetically heterogeneous macular dystrophy—remains unclear. We analyzed 246 STGD patients at a U.S. referral center (2003-2024) who completed genetic testing, comparing laboratory-reported results (lab-GT) with manual, phenotype-integrate...

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Literature Corpus work: a867ede6-7822-550d-aa10-af62c4ee0cc2
DOI: 10.1101/2025.08.28.25334377

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