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Compendium of clinical variant classification for 2,247 unique<i>ABCA4</i>variants to improve genetic medicine access for Stargardt Disease

2023-04-26

Abstract excerpt

Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be difficult due to 1) the high number of benign and pathogenic variants in the gene; 2) the presence of complex alleles; 3) the extensive variable expressivity of this disease and 4) reduced penetrance of hypomorphic variants. Therefore, the cl...

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Literature Corpus work
4e785a7e-8947-5ae5-9fef-4159ab1bbc2a
DOI
10.1101/2023.04.24.23288782
Open publication

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Compendium of clinical variant classification for 2,247 unique<i>ABCA4</i>variants to improve genetic medicine access for Stargardt DiseaseDOI 10.1101/2023.04.24.23288782
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