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Article

Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression.

Genes, chromosomes & cancer - 1 May 2023

Stachelek Kevin, Harutyunyan Narine, Lee Susan, Beck Assaf, Kim Jonathan, Xu Liya, Berry Jesse L, Nagiel Aaron, Reynolds C Patrick, Murphree A Linn, Lee Thomas C, Aparicio Jennifer G, Cobrinik David

Abstract excerpt

Retinoblastomas form in response to biallelic RB1 mutations or MYCN amplification and progress to more aggressive and therapy-resistant phenotypes through accumulation of secondary genomic changes. Progression-related changes include recurrent somatic copy number alterations and typically non-recurrent nucleotide variants, including synonymous and non-coding variants, whose significance has been unclear. To...

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Identifiers

PMID: 36550020
DOI: 10.1002/gcc.23120
PMCID: PMC10006380

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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