Functional and structural analyses

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

Besterman AD, Althoff T, Elfferich P, Gutierrez-Mejia I, Sadik J, Bernstein JA, van Ierland Y,

Kattentidt-Mouravieva AA, Nellist M, Abramson J, Martinez-Agosto JA.
PLoS Genet. 2021 Jul 1;17(7):e1009651. doi: 10.1371/journal.pgen.1009651. eCollection 2021 Jul.

PMID: 34197453

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