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)

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)
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Biochemistry, Genetics and Molecular Biology