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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Pubmed ID: 
34494102
Year: 
2021
Month: 
Sep
Citation: 
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C, MCRI Rare Diseases Flagship, Wickramasinghe VO, White SM, Christodoulou J. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. HUMAN MOLECULAR GENETICS (2021) PubMed