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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RB1

Variant:p.H784_R787del4

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RB1

NM_000321.3:p.H784_R787del4

hg38:chr13:48465228 TCACATTCCTCGA>T

Associated Papers

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

Manukonda R et al.

Ophthalmic Genetics, 2022

34645364 (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."