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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 97:302-10 (2015)
DOI:10.1016/j.ajhg.2015.05.021

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Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.

Cureus 13:e19682 (2021)
DOI:10.7759/cureus.19682