Decoding of novel missense TSC2 gene variants using in-silico methods

BACKGROUND: Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that senses specific cell growth conditions to contr...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Sudarshan, Shruthi, Kumar, Manoj, Kaur, Punit, Kumar, Atin, G., Sethuraman, Sapra, Savita, Gulati, Sheffali, Gupta, Neerja, Kabra, Madhulika, Roy Chowdhury, Madhumita
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6815426/
https://ncbi.nlm.nih.gov/pubmed/31655562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0891-y
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