Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

Aaron D. Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A. Bernstein, Yvette Van Ierland, Anja A. Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A. Martinez-Agosto*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology