Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G885Splc
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ABCA4

NM_000350.3:p.G885Splc

Associated Papers

Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches.

Gómez-Escribano AP et al.

Ebiomedicine, 2025

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

Kaltak M et al.

Journal of Translational Medicine, 2023

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Seki M et al.

Nature Communications, 2015

26138366 (PubMed )
Supplement: ncomms8557-s3.xlsx › Sheet1
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