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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RB1

Variant:p.H673_I680del0

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RB1

NM_000321.3:p.H673_I680del0

hg38:chr13:48459744 CACCCAGAATTAGAACATATCA>C

Associated Papers

RB1 gene mutations and genetic spectrum in retinoblastoma cases.

Akdeniz Odemis D et al.

Medicine, 2023

37682130 (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."