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Table 3 Distribution of PAH gene variation types

From: The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Type

Number

Frequency (%)

Missense

120

64.86

Splice

28

15.14

Nonsense

19

10.27

Frameshift

6

3.24

Large-scale deletion

9

4.86

Large-scale duplication

2

1.08

5'UTR

1

0.54

Total

185

100

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Human Genomics

ISSN: 1479-7364