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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.S1185delFs

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ABCA4

NM_000350.3:p.S1185delFs

hg38:chr1:94040094 TG>T

Associated Papers

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB et al.

European Journal of Human Genetics : Ejhg, 2008

18285826 (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."