Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.W563C
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RB1

NM_000321.3:p.W563C

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

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Singh J et al.

Molecular Vision, 2016

Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.

Barbosa RH et al.

Investigative Ophthalmology & Visual Science, 2013

Conservation of the RB1 gene in human and primates.

Sivakumaran TA et al.

Human Mutation, 2005

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

Alonso J et al.

Human Mutation, 2005

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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."