Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.T377S
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RB1

NM_000321.3:p.T377S

Associated Papers

A phase Ib study of sapacitabine and olaparib in patients with BRCA1/2-mutated metastatic breast cancer.

Lynce F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

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

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Cygan KJ et al.

Human Genetics, 2017

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1
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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."