Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S2129R
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ABCA4

NM_000350.3:p.S2129R

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM8_ESM.xlsx › Supplementary_Data_4_pathogenic

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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