Is anyone doing research regarding the effects of genetic variants within exonic splice enhancer regions on psychiatric phenotypes?

14 September 2018 0 3K Report

I am wondering how difficult it would be to investigate how genetic variants within exonic splice enhancer regions affect the expression of different isoforms (this may lead to different functional characteristics of the resulting proteins due to variations in splicing). I am particularly interested in how these types of variants in genes coding ion channels, receptors, or regulatory proteins might affect neurodevelopment.

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