Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.A18_P26delFs
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RB1

NM_000321.3:p.A18_P26delFs

Associated Papers

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants.

Vural Ö et al.

International Journal of Ophthalmology, 2023

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

Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.

Alekseeva EA et al.

Cancers, 2021

A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Zhang Y et al.

Scientific Reports, 2021

33432021 (PubMed )
Supplement: 41598_2020_79694_MOESM2_ESM.xlsx › Sheet1

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Singh J et al.

Molecular Vision, 2016

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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."