Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P1451Splc
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ABCA4

NM_000350.3:p.P1451Splc

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Kaltak M et al.

Journal of Translational Medicine, 2023

37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4
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