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Fig. 3 | BMC Pediatrics

Fig. 3

From: A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report

Fig. 3

Multi-sequence alignments of SMARCAL1 protein shows invariance of R645C and R817H from human to chimpanzee. In silico analysis of the likely pathogenicity of the two mutations shows variant scores (SIFT = 0.00, PolyPhen-2 = 1.00) characteristic of a highly likely pathogenic mutations. The red box indicated the positions of SMARCAL1 mutatnt proteins

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BMC Pediatrics

ISSN: 1471-2431

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