Article

Genetic risk estimates for offspring of patients with Stargardt disease

2021-08-11

Abstract excerpt

<h4>BACKGROUND</h4> Genetic counseling in autosomal recessive Stargardt disease (STGD1) is complicated because of unknown frequencies of pathogenic ABCA4 alleles across populations, variable and unknown severity of ABCA4 alleles, and incomplete penetrance. <h4>METHODS</h4> In this cross-sectional study, published ABCA4 variants were categorized by severity based on previous functional and clinical studies and curr...

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Literature Corpus work: 16b184ea-7de0-5415-a2bd-75e8540b6446
DOI: 10.1101/2021.08.11.21261888

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