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(a) Trio‐whole exome sequencing (trio‐WES) identified that the CNNM2 gene of the infant had heterozygous variation (c.566A>G/p.Tyr189Cys), and the parents were wild‐type at the ectopic site of the variant. Therefore, this indicates a denovo mutation of CNNM2 gene. Sanger sequencing confirmed the existence of the variant. (b) Tyr189 is highly conserved among the different species studied
