Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R579Q
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RB1

NM_000321.3:p.R579Q

Associated Papers

Small cell carcinoma with rhabdomyosarcomatous differentiation of the urinary bladder: an integrated clinicopathological and molecular characterization of five cases.

Zhao M et al.

Virchows Archiv : an International Journal of Pathology, 2025

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › benign___likely_benign

Cell-free DNA as a molecular tool for monitoring disease progression and response to therapy in breast cancer patients.

Liang DH et al.

Breast Cancer Research and Treatment, 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."