Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E587*
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RB1

NM_000321.3:p.E587*

Associated Papers

Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

Ratna R et al.

Ophthalmic Genetics, 2025

Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.

Faranoush M et al.

Cancer Medicine, 2025

RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).

Kugalingam N et al.

Bmc Medical Genomics, 2023

Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Zhang J et al.

Frontiers in Oncology, 2021

33996580 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Heterogeneity Underlies the Emergence of EGFRT790 Wild-Type Clones Following Treatment of T790M-Positive Cancers with a Third-Generation EGFR Inhibitor.

Piotrowska Z et al.

Cancer Discovery, 2015

Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.

Kiran VS et al.

Human Mutation, 2003

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL et al.

Annals of Human Genetics, 1998

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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."