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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RB1

Variant:p.I679_I680delFs

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RB1

NM_000321.3:p.I679_I680delFs

hg38:chr13:48459758 ACATAT>A

Associated Papers

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

Li L et al.

International Ophthalmology, 2022

35960463 (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."