Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.K447Q
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RB1

NM_000321.3:p.K447Q

Associated Papers

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 › Uni__germline__n__170

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Cygan KJ et al.

Human Genetics, 2017

Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.

de Oliveira Reis AH et al.

Pediatric Blood & Cancer, 2012

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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."