De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.

Neuropsychopharmacology reports(2018)

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摘要
Based on our results, we suggest that an abnormal splicing pattern of UNC13B occurred in the patient, which could be related to the pathophysiology of bipolar disorder.
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关键词
UNC13B,bipolar disorder,de novo mutation,splicing assay
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