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Identification of the DEGS1 variant: a Homozygosity mapping: SNPs colored red, blue and dashed red represent homozygosity for major allele, heterozygosity and homozygosity for the minor allele, respectively; arrow marks a single chromosome 1 homozygous locus shared by affected individuals (Homozygosity-Mapper). b The c.764A>G DEGS1 variant (Sanger sequencing). c evolutionary conservation of the p.(N255S) variant. d Location of the variant within the cytosolic domain of DEGS1
