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Article

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

Journal of intellectual disability research : JIDR - 1 Oct 2010

Christofolini D M, de Paula Ramos M A, Kulikowski L D, da Silva Bellucco F T, Belangero S I N, Brunoni D, Melaragno M I

Abstract excerpt

BACKGROUND: The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes. METHOD: In the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection of copy number variation in 132 intellectually disabled male...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20807304
DOI: 10.1111/j.1365-2788.2010.01325.x

Genes

SECTM1

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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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