An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database
Arthur Bandeira de Mello Garcia,
Guilherme Danielski Viola,
Bruno da Silveira Corrêa
et al.
Abstract:Tuberous Sclerosis Complex (TSC) is caused by loss of function germline variants in the
TSC1
or
TSC2
tumor suppressor genes. Genetic testing for the detection of pathogenic variants in either
TSC1
or
TSC2
was implemented as a diagnostic criterion for TSC. However, TSC molecular diagnosis can be challenging due to the absence of variant hotspots and the high number of variants described. This review aimed to perform an o… Show more
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