Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R46Splc
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RB1

NM_000321.3:p.R46Splc

Associated Papers

Pancreatic adenocarcinoma in a patient with a germline RB1 pathogenic variant.

Patel R et al.

Familial Cancer, 2025

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938

Conservation of the RB1 gene in human and primates.

Sivakumaran TA et al.

Human Mutation, 2005

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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."