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May 7, 2015BMC GenomicsOpen Access

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

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XZXiaoqing ZhangKunming Medical UniversityYXYuejuan XuXinHua HospitalDLDeyuan LiuBeihang University

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Zhang et al. (2015) studied this question.

synapsesocial.com/papers/6aa92e44d63d3982000e0102https://doi.org/10.1186/s12864-015-1590-5
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.1997 · 1,203 citations
  2. 2SgD-CNV, a database for common and rare copy number variants in three Asian populations2011 · 32 citations
  3. 3Sensitive and accurate detection of copy number variants using read depth of coverage2009 · 662 citations
  4. 4Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification2002 · 2,707 citations
  5. 5Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications2010 · 43 citations