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<i>RB1</i>sequence variants in retinoblastoma. Analysis of<i>RB1</i>variants in a database for correlation with pRB protein domains and clinical presentation

2025-01-17

Abstract excerpt

<h4>ABSTRACT</h4> Retinoblastoma (RB) is the most common pediatric ocular tumor that occurs due to biallelic inactivation of the RB1 tumor suppressor gene. RB may be unilateral or bilateral and is hereditary in 50% of cases. Inactivation of the RB1 gene may occur by gross rearrangements (20%) or by small-length changes (80%): single nucleotide substitutions (SNVs) and insertions/deletions (INDELs). We analyzed the...

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Literature Corpus work
72145950-eb63-51f8-92f8-23fede82c839
DOI
10.1101/2025.01.16.24319096
Open publication

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<i>RB1</i>sequence variants in retinoblastoma. Analysis of<i>RB1</i>variants in a database for correlation with pRB protein domains and clinical presentationDOI 10.1101/2025.01.16.24319096
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