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Fig. 2 | Human Genomics

Fig. 2

From: Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Fig. 2

Variants identified from WES and chromosome CGH. a Multiple sequence alignment of the CEP290 protein for different species. (black arrow denotes the position of the variant) (c.5953G>T [p.E1985*]). b WES identified a suspected 65.97-kb deletion in 12q21.32 which affected CEP290 in the father and siblings (8Y7031: proband, 9Y0242: sibling, 8Y7031FU0: father, 8Y7031MU0: mother). c Chromosome CGH confirmed a 298.1-kb deletion in 12q21.32 which affected CEP290 in the family

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