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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.L43_P47delFs

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RPE65

NM_000329.3:p.L43_P47delFs

hg38:chr1:68446814 TGGCCCACATCGAA>T

Associated Papers

A Natural History Study of RP2-Related Retinopathy.

Cheloni R et al.

Journal of Clinical Medicine, 2022

36498452 (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."