Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R1443C
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ABCA4

NM_000350.3:p.R1443C

Associated Papers

Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives.

Jones JS et al.

Advances in Experimental Medicine and Biology, 2025

β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.

Bourmoum M et al.

Plos One, 2024

38324534 (PubMed )
Supplement: pone.0295030.s003.xlsx › 3samples.exome.dp5.snvindel

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Cornelis SS et al.

Human Mutation, 2023

40225145 (PubMed )
Supplement: 6815504.f1.zip › S9_PS1_PM5.xlsx › Missense

Loss of AXIN1 drives acquired resistance to WNT pathway blockade in colorectal cancer cells carrying RSPO3 fusions.

Picco G et al.

Embo Molecular Medicine, 2017

28100566 (PubMed )
Supplement: EMMM-9-293-s001.pdf
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