Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L657P
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RB1

NM_000321.3:p.L657P

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 › n_1303

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

Dommering CJ et al.

Journal of Medical Genetics, 2014

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.

Scheffer H et al.

Journal of Medical Genetics, 2000

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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."