Publications:

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

Plos Genetics

Besterman, Aaron D AD; Althoff, Thorsten T; Elfferich, Peter P; Gutierrez-Mejia, Irma I; Sadik, Joshua J; Bernstein, Jonathan A JA; van Ierland, Yvette Y; Kattentidt-Mouravieva, Anja A AA; Nellist, Mark M; Abramson, Jeff J; Martinez-Agosto, Julian A JA

Publication Date: 2021-07

Variant appearance in text: ATM: 5663A>C

PubMed Link: 34197453

Variant Present in the following documents:

• Main text
• pgen.1009651.pdf

View BVdb publication page

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Neurology. Genetics

Møller, Rikke S RS; Weckhuysen, Sarah S; Chipaux, Mathilde M; Marsan, Elise E; Taly, Valerie V; Bebin, E Martina EM; Hiatt, Susan M SM; Prokop, Jeremy W JW; Bowling, Kevin M KM; Mei, Davide D; Conti, Valerio V; de la Grange, Pierre P; Ferrand-Sorbets, Sarah S; Dorfmüller, Georg G; Lambrecq, Virginie V; Larsen, Line H G LH; Leguern, Eric E; Guerrini, Renzo R; Rubboli, Guido G; Cooper, Gregory M GM; Baulac, Stéphanie S

Publication Date: 2016-12

Variant appearance in text: ATM: 5663A>C

PubMed Link: 27830187

Variant Present in the following documents:

• Main text

View BVdb publication page