Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D2021A
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ABCA4

NM_000350.3:p.D2021A

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
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