Publications:

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.

Annals Of Medicine And Surgery (2012)

Triono, Agung A; Herini, Elisabeth S ES; Iskandar, Kristy K; Hadiyanto, Marissa L ML; Diantika, Kania K; Wijayanti, Veronica W VW; Gunadi,

Publication Date: 2023-05

Variant appearance in text: TSC2: 4942A>T

PubMed Link: 37228977

Variant Present in the following documents:

• Main text
• ms9-85-2102.pdf

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Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Scientific Reports

Avgeris, Socratis S; Fostira, Florentia F; Vagena, Andromachi A; Ninios, Yiannis Y; Delimitsou, Angeliki A; Vodicka, Radek R; Vrtel, Radek R; Youroukos, Sotirios S; Stravopodis, Dimitrios J DJ; Vlassi, Metaxia M; Astrinidis, Aristotelis A; Yannoukakos, Drakoulis D; Voutsinas, Gerassimos E GE

Publication Date: 2017-12-01

Variant appearance in text: TSC2: 4942A>T

PubMed Link: 29196670

Variant Present in the following documents:

• Main text
• 41598_2017_Article_16988.pdf

View BVdb publication page