Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P1438Q
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ABCA4

NM_000350.3:p.P1438Q

Associated Papers

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Rodilla C et al.

International Journal of Molecular Sciences, 2025

40332496 (PubMed )
Supplement: ijms-26-03825-s001.zip › ijms-3500701-supplementary › RodillaC_LR-WGS_reviewed_Supplementary.xlsx › Table_S2

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

Chacon-Camacho OF et al.

Molecular Genetics and Genomics : Mgg, 2024

Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues.

Jung SH et al.

Experimental & Molecular Medicine, 2020

33319857 (PubMed )
Supplement: 12276_2020_544_MOESM1_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."