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The chromatographic profile of each parent shows a superposition of the genomic sequences of the two alleles, one allele wild-type and the second with the mutation at position c.900, confirming the heterozygous status. Index case chromatogram shows only one genomic sequence, confirming the homozygous status for the pathogenic variant c.[900dup];[900dup];p.[(Glu301Argfs*56); (Glu301Argfs*56)].
