Associated Papers
Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene.
Wang Y et al.
International Journal of General Medicine, 2022
[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].
Niu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
25782670 (PubMed )
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