Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L134*
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RB1

NM_000321.3:p.L134*

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 › Bilat__germline__n__938

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1

Genetic screening in patients with Retinoblastoma in Israel.

Sagi M et al.

Familial Cancer, 2015

Collective inhibition of pRB family proteins by phosphorylation in cells with p16INK4a loss or cyclin E overexpression.

Ashizawa S et al.

The Journal of Biological Chemistry, 2001

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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."