Evaluation of Maternally Inherited 3q26.32 Duplication in a 6-Year-Old Male with Autism

Maternal inheritance of a 3q26.32 duplication in a 6-year-old male with autism was assessed using the GAIN scoring metric. The duplication involves the TBL1XR1 gene and was found to fully overlap with a known haploinsufficient gene. The genomic content evaluation indicates the presence of one protei

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