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The Whole Exome Sequencing (WES) of the patient and family members and structural evaluation of AGXT variant. (A) WES revealed AGXT c.823_824dup (p. Ser275ArgfsTer38) variant in patient (red arrow). (B) Visualization of the wild and c.823_824dup variant of AGXT gene using swiss-model. (C) The pedigrees of the family with digenic inheritance.
