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Table 4 Proportion of each mutation type of FRMD7 (HGMD professional 2023.1)

From: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Mutation type

Number

Proportion

Missense/nonsense

91

59.5%

Splicing

28

18.3%

Small deletion

20

13.0%

Small indels

7

4.6%

Small insertion

1

0.65%

Gross deletion

6

3.9%

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BMC Medical Genomics

ISSN: 1755-8794

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