Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC, and the identification of a pathogenic TSC1 or TSC2 variant helps establi...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Dufner Almeida, Luiz G., Nanhoe, Santoesha, Zonta, Andrea, Hosseinzadeh, Mitra, Kom‐Gortat, Regina, Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, Daniel, Migone, Nicola, Povey, Sue, Ekong, Rosemary, Nellist, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7154745/
https://ncbi.nlm.nih.gov/pubmed/31799751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23963
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