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Table 2 FOXL2 mutation (c.223C > T) results from pathogenicity prediction software

From: Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

 

PROVEAN

SIFT

PolyPhen-2

Mutation Taster

Score

−3.185

0.00

0.999

0.999

Prediction Result

deleterious

Affect protein function

Probably damaging

disease causing

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BMC Medical Genetics

ISSN: 1471-2350

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