Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.A14A
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RB1

NM_000321.3:p.A14A

Associated Papers

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 › Bilat__germline__n__938

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

Brzezinski J et al.

British Journal of Cancer, 2021

33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM7_ESM.xlsx › Sheet1

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

Dommering CJ et al.

Journal of Medical Genetics, 2014

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