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Fig. 2 | BMC Medical Genetics

Fig. 2

From: COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Fig. 2

The three-generation family. Shown are genotypes of the COPA mutation (W: wild-type allele, M: mutated allele). Blackened symbols denote affected individuals, unblackened symbols denote unaffected individuals, and the slashed line denotes deceased. The genotypes of the siblings of the index case (II-3) were obtained with Sanger sequencing and the other six family members were whole-genome sequenced

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