Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E2233del1
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ABCA4

NM_000350.3:p.E2233del1

Associated Papers

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Corradi Z et al.

Hgg Advances, 2023

37705246 (PubMed )
Supplement: mmc1.pdf

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Jauregui R et al.

Investigative Ophthalmology & Visual Science, 2020

32298433 (PubMed )
Supplement: iovs-61-4-13_s001.pdf
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