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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RCC1

Variant:p.R57delFs

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RCC1

NM_001381865.2:p.R57delFs

hg38:chr1:28531898 AG>A

Associated Papers

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

Catomeris AJ et al.

Ophthalmic Genetics, 2022

35057699 (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."