Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R7*
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RB1

NM_000321.3:p.R7*

Associated Papers

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

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Uni__germline__n__170

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5
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