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Pedigree of the two affected sisters. Family members are represented by their birth years. The affection status of the sisters is indicated by filled symbols. The status of the two UBA5 (NM_024818.3) mutations is provided below each family member, where red refers to the status of the missense mutation, p.Ala371Thr (m1), blue refers to the status of the exonic splicing mutation, c.684G > A (m2), and the plus sign (+) refers to the wild-type allele
