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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Fig. 3

Copy number variations analysis associates exon 3 of GLDC gene detected by Q-PCR. Two independent primers were used, the results of which are labeled as Target 1 and Target 2 respectively. The proband and his father both having a CN = 1 indicated a heterozygous deletion of exon 3, and his mother had a CN = 2, identical to the control samples, indicating a normal copy numbers of exon 3

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