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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

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0 Published in 2017 at "Clinical Genetics"

DOI: 10.1111/cge.12793

Abstract: THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a… read more here.

Keywords: mutations thoc6; intellectual disability; disability; missense mutation ... See more keywords