Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q702_I703Splc
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RB1

NM_000321.3:p.Q702_I703Splc

Associated Papers

The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.

Assaf N et al.

Ophthalmic Genetics, 2025

Gain of Aggressive Histological and Molecular Patterns after Acquired Resistance to Novel Anti-EGFR Therapies in Non-Small Cell Lung Cancer.

Basse C et al.

International Journal of Molecular Sciences, 2023

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

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › class5___class4
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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."