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(a): Sequence chromatograms of the NIPAL4 gene (Ref Seq: NG_016626.1). in the region of the c.534A>C mutation, showing a control, carrier and mutant subject. Nucleotide variations are underlined. (b): pedigree of the family with the c.534A>C mutation (A indicates the wt allele and C the mutated allele)
