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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.S474_A478delFs

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RPE65

NM_000329.3:p.S474_A478delFs

hg38:chr1:68431082 GCATCTGGGTGAGA>G

Associated Papers

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK et al.

Investigative Ophthalmology & Visual Science, 2021

34940782 (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."