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. 2012 Oct 9;2(1):71–79. doi: 10.1159/000342620

Table 3.

Mutations of the PKD2 gene in 2 patients with IAs

Case No. Exon Kind of mutation Mutation Amino acid Established
14 4 missense 964 C/T R 322 W highly likely pathogenic
15 13 missense 2420 G/A R 807 Q undetermined