De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.
Neuropsychopharmacology reports(2018)
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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