Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.P21delFs
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RB1

NM_000321.3:p.P21delFs

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

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

Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.

Zhang Y et al.

Disease Markers, 2021

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Sánchez-Sánchez F et al.

Human Mutation, 2007

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K et al.

Journal of Human Genetics, 2006

Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma.

Racher H et al.

Cancer Genetics, 0

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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."