Publications:

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: TSC2: Lys954Arg

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Human Mutation

Ekong, Rosemary R; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Wentink, Marjolein M; Panzer, Jessica J; Sparagana, Steven S; Emmett, Warren W; Dawson, Natalie L NL; Malinge, Marie Claire MC; Nabbout, Rima R; Carbonara, Caterina C; Barberis, Marco M; Padovan, Sergio S; Futema, Marta M; Plagnol, Vincent V; Humphries, Steve E SE; Migone, Nicola N; Povey, Sue S

Publication Date: 2016-04

Variant appearance in text: TSC2: K954R

PubMed Link: 26703369

Variant Present in the following documents:

• Main text
• HUMU-37-364.pdf

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: K954R

PubMed Link: 23514105

Variant Present in the following documents:

• Main text
• 2040-2392-4-5.pdf

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