Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E287_V288Splc
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RB1

NM_000321.3:p.E287_V288Splc

Associated Papers

Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.

Schmalz D et al.

International Journal of Molecular Sciences, 2025

41373665 (PubMed )
Supplement: ijms-26-11512-s001.zip › Supplementary_Table_1_revised.xlsx › SNV_indels

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma.

He GQ et al.

Frontiers in Oncology, 2025

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S3

A Lung Adenocarcinoma Patient With a Rare EGFR E709_T710delinsD Mutation Showed a Good Response to Afatinib Treatment: A Case Report and Literature Review.

Wei Y et al.

Frontiers in Oncology, 2021

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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."