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Fig. 2 | Genome Biology

Fig. 2

From: Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Fig. 2

a Pedigrees of the two families that generated linkage to THSD1 (index boxed in red). b Genome-wide linkage analysis showing a single significant peak (red arrow) that spans the THSD1 locus. c Cartoon of the THSD1 gene and protein with the location of the two identified mutations marked. The missense mutation replaces a highly conserved amino acid across species

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