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View article: Biallelic <scp><i>THOC6</i></scp> pathogenic variants: Prenatal phenotype and review of the literature
Biallelic <span><i>THOC6</i></span> pathogenic variants: Prenatal phenotype and review of the literature Open
Background The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss‐of‐function variants of the THOC6 gene were identified in the Beaul…