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To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants.

investigative ophthalmology and visual science

The Common<i>ABCA4</i>Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in<i>trans</i>With Severe Variants

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants