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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.K1106insFs

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ABCA4

NM_000350.3:p.K1106insFs

hg38:chr1:94042771 C>CT

Associated Papers

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Falsini B et al.

Scientific Reports, 2022

35260635 (PubMed )

Supplement: 41598_2022_7618_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."