Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N405_N406Splc
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RB1

NM_000321.3:p.N405_N406Splc

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

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Gomez-Mariano G et al.

Experimental Eye Research, 2025

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

The genomic landscape of Mongolian hepatocellular carcinoma.

Candia J et al.

Nature Communications, 2020

32873799 (PubMed )
Supplement: 41467_2020_18186_MOESM15_ESM.xlsx › Suppl_Data_13

A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.

Parsam VL et al.

Journal of Genetics, 2009

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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."