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. 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355

Figure 2.

Figure 2

Large Brazilian family of proband FBP_62 from Belo Horizonte, sequenced for the frequent founder intronic variant M (c.2991+1665A>C) in CEP290. Affected individuals FBP_334, FBP_335, and FBP_62 were all confirmed homozygous for this variant. Non-affected family members FBP_333 and FBP_332 were confirmed heterozygous carriers for this variant.