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Table 3 Summary of the targeted exome sequencing results

From: A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Sample

Targeted Gene

Targeted region (bp)

Targeted region coverage (%)

Targeted exon coverage (%)

Mean depth (×)

Mean depth > 30× (%)

II-1

FOXC1, PITX2

2637

82.03

96

151.61

63.48

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BMC Medical Genetics

ISSN: 1471-2350

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