Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R46Splc
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RB1

NM_000321.3:p.R46Splc

Associated Papers

The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Díaz de Ståhl T et al.

Journal of Translational Medicine, 2023

37221626 (PubMed )
Supplement: 12967_2023_4178_MOESM2_ESM.xlsx › Table_S1

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

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Parma D et al.

Plos One, 2017

Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

Ayari-Jeridi H et al.

Plos One, 2015

Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.

Ayari Jeridi H et al.

Experimental Eye Research, 2014

Role of genetic testing in retinoblastoma management at a tertiary referral centre.

Pradhan MA et al.

Clinical & Experimental Ophthalmology, 2010

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K et al.

Journal of Human Genetics, 2006

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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."