Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.A22insFs
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RB1

NM_000321.3:p.A22insFs

Associated Papers

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Gomez-Mariano G et al.

Experimental Eye Research, 2025

Genotype-phenotype correlations in hereditary familial retinoblastoma.

Taylor M et al.

Human Mutation, 2007

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Sánchez-Sánchez F et al.

Human Mutation, 2007

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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."