Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S795*
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RB1

NM_000321.3:p.S795*

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

Next-generation sequencing-based identification of EGFR and NOTCH2 complementary mutations in non-small cell lung cancer.

Niu L et al.

Oncology Letters, 2021

Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Fan Y et al.

Molecular Oncology, 2020

32478891 (PubMed )
Supplement: MOL2-14-1731-s002.xlsx › Sheet1

Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Tang J et al.

Theranostics, 2020

32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S et al.

American Journal of Human Genetics, 2003

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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."