Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E280*
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RB1

NM_000321.3:p.E280*

Associated Papers

Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

Ratna R et al.

Ophthalmic Genetics, 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

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

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information

[Molecular diagnosis of retinoblastoma. First experience in Russia].

Babenko OV et al.

Vestnik Oftalmologii, 0

[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma].

Babenko OV et al.

Molekuliarnaia Biologiia, 0

[RB1 and CDKN2A functional defects resulting in retinoblastoma].

Babenko OV et al.

Molekuliarnaia Biologiia, 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."