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[Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2014

Chen Yunying, Li Huanzheng, Tang Shaohua, Hu Ting, Du Jicheng

Abstract excerpt

OBJECTIVE: To employ single nucleotide polymorphisms (SNP) microarray to detect copy number variations (CNVs) for the diagnosis of disease and molecular classification. METHODS: For a patient with split-hand/split-foot malformation, genome-wide copy number variants SNP microarray was applied. Tiny copy number variations were verified by real-time fluorescent quantitative PCR. RESULTS: The results of SNP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25449087
DOI: 10.3760/cma.j.issn.1003-9406.2014.06.021

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LBX1
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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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