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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.R18delFs

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ABCA4

NM_000350.3:p.R18delFs

hg38:chr1:94120991 TC>T

Associated Papers

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

39206744 (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."