Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E677*
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RB1

NM_000321.3:p.E677*

Associated Papers

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

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

31015309 (PubMed )
Supplement: 15357163mct181247-sup-211489_2_supp_5355372_pn7d76.pdf

Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Nguyen HH et al.

Molecular Vision, 2018

The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

Jour G et al.

The Journal of Pathology. Clinical Research, 2016

27499911 (PubMed )
Supplement: CJP2-2-09-s001.xlsx › Sheet1
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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."