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Table 6 Variant types of all genes

From: Genotype-phenotype associations in microtia: a systematic review

MUTATION TYPE

n

%

Missense

40

52,63%

Deletion

24

31,58%

Silent Mutation

9

11,84%

Frameshift

2

2,63%

Nonsense

1

1,32%

TOTAL

76

 
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172