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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.Q1513_R1514Splc

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ABCA4

NM_000350.3:p.Q1513_R1514Splc

hg38:chr1:94027446 C>G

Associated Papers

Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.

Karjosukarso DW et al.

Stem Cell Research, 2023

37480818 (PubMed )

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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."