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Genetic study. a Compound heterozygosity in SAMHD1 of p.(Phe165Ser)/p.(Gln235*) identified in the proband by whole-exome sequencing (Integrative Genomic Viewer screen shot) b Verified by amplicon deep sequencing in the proband (P), proband's mother (M) and father (F). c Pedigree of examined family with phenotype/genotype information; circle represents female, squares indicate males, filled symbol shows affected individual. Arrow indicates proband. wt; wild type.
