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Table 1 Prediction of pathogenicity of the identified heterozygous mutation c.712 C > T:p.Q238X in the SALL4 gene

From: A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

Gene

Mutation

SIFT

Mutation taster

LRT-pred

CAAD-Phred (RefSeq)

SALL4

(NM_001318031)

c.712C>T

(Q238X)

D

D

N

36

  1. D Damaging; N Neutral
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BMC Medical Genomics

ISSN: 1755-8794

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