Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.P26fs
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RB1

NM_000321.3:p.P26fs

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

Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Yamaura T et al.

Oncotarget, 2018

30680068 (PubMed )
Supplement: oncotarget-09-37534-s002.xlsx › MSI-H

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_8

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.

Georgitsi M

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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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."