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Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome: Insight from a systematic literature-based study

2025-01-28

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<title>Abstract</title> <p>Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) in 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [ (i)dic(15) ] or an interstitial duplication, are among the most frequent CNVs in NDD. The associated Dup15q...

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Literature Corpus work
c7f09bfb-f393-585a-ae5c-5c950c7b6572
DOI
10.21203/rs.3.rs-5833554/v1
Open publication

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Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome: Insight from a systematic literature-based studyDOI 10.21203/rs.3.rs-5833554/v1
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