Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S474N
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RB1

NM_000321.3:p.S474N

Associated Papers

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Price EA et al.

Ophthalmic Genetics, 2024

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

Resistance to TRK inhibition mediated by convergent MAPK pathway activation.

Cocco E et al.

Nature Medicine, 2019

31406350 (PubMed )
Supplement: NIHMS1533563-supplement-1.xlsx › Patient_1

Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Alonso-Peña M et al.

Cancer Drug Resistance (alhambra, Calif.), 2019

UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.

Wong SQ et al.

Cancer Research, 2015

26627015 (PubMed )
Supplement: 00085472can151877-sup-152397_1_supp_3130424_n439px.xlsx › Supplementary_Table_S7

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

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."