Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q702K
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RB1

NM_000321.3:p.Q702K

Associated Papers

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1E_Excluded_datasets

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Liu J et al.

Nature Communications, 2021

34552068 (PubMed )
Supplement: 41467_2021_25792_MOESM4_ESM.xlsx › patient_information

Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Balendran S et al.

Journal of Neuro-oncology, 2017

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

Singh J et al.

Molecular Vision, 2016

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S et al.

American Journal of Human Genetics, 2003

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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."