A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley (Lead / Corresponding author), Greg M. Findlay (Lead / Corresponding author)

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7 Citations (Scopus)
155 Downloads (Pure)

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