Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E675*
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RB1

NM_000321.3:p.E675*

Associated Papers

Concordance and Clinical Significance of Genomic Alterations in Progressive Tumor Tissue and Matched Circulating Tumor DNA in Aggressive-variant Prostate Cancer.

Wang R et al.

Cancer Research Communications, 2023

37877742 (PubMed )
Supplement: crc-23-0175-s02.xls › Supplementary_Table_2

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

Well-differentiated lipomatous neoplasms with p53 alterations: a clinicopathological and molecular study of eight cases with features of atypical pleomorphic lipomatous tumour.

Hammer PM et al.

Histopathology, 2022

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Valverde JR et al.

Bmc Genetics, 2005

16269091 (PubMed )
Supplement: 1471-2156-6-53-S4.xls › Hoja1
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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."