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Fig. 1 | Genome Medicine

Fig. 1

From: Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

Fig. 1

Chromosomal view of rare CNVs in candidate Htx patients and the verified results of qPCR. a CytoScan HD array presents a 302.5-kb deletion of 1q21.1 involving RNF115. b A 953.5-kb duplication at 12q24.31 affecting both TCTN2 and DNAH10. In data (a, b), the upper panel depicts log2 ratio data, the middle panel depicts the copy number duplications or deletions, and the lower panel depicts smooth signals of indicated segments. Locations of genes implicated in Htx are shown in the top. Results of qPCR are denoted by yellow stars

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