Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G1653R
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ABCA4

NM_000350.3:p.G1653R

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.pdf

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: mmc9.xlsx › Table_S11
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