Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.P777delFs
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RB1

NM_000321.3:p.P777delFs

Associated Papers

Novel LZTR1 germline mutation as a mechanism of resistance to osimertinib in EGFR-mutated lung adenocarcinoma: a case report.

Park W et al.

Translational Lung Cancer Research, 2025

Mutation spectrum of retinoblastoma patients in Vietnam.

Linh DNH et al.

Molecular Genetics & Genomic Medicine, 2023

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

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Xie Y et al.

Risk Management and Healthcare Policy, 2021

Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nong J et al.

Nature Communications, 2018

30082701 (PubMed )
Supplement: 41467_2018_5327_MOESM6_ESM.xlsx › ___1

Genetic changes of non-small cell lung cancer under neoadjuvant therapy.

Warth A et al.

Oncotarget, 2016

27105513 (PubMed )
Supplement: oncotarget-07-29761-s002.xlsx › Tabelle1

NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

Meder L et al.

International Journal of Cancer, 2016

26340530 (PubMed )
Supplement: IJC-138-927-s005.xlsx › Tabelle1

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

Vaca-Paniagua F et al.

Plos One, 2015

25961742 (PubMed )
Supplement: pone.0126762.s015.xlsx › S11_Table
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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."