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The GNPTAB genetic testing revealed compound heterozygosity of c.3091C>T (p.Arg1031X) (A) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3) (B). The c.3091C>T mutation was inherited from the father, and the c.3456_3459dupCAAC mutation was inherited from the mother.
