Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.K240Splc
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RB1

NM_000321.3:p.K240Splc

Associated Papers

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas.

Ragazzon B et al.

European Journal of Endocrinology, 2014

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

Abidi O et al.

Molecular Vision, 2011

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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."