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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.H1865insFs

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ABCA4

NM_000350.3:p.H1865insFs

hg38:chr1:94010919 G>GT

Associated Papers

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.

Whelan L et al.

Scientific Reports, 2023

37296172 (PubMed )

Supplement: 41598_2023_35889_MOESM1_ESM.docx

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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."