Publications:

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

Bmc Cancer

Popp, Bernt B; Agaimy, Abbas A; Kraus, Cornelia C; Knaup, Karl X KX; Ekici, Arif B AB; Uebe, Steffen S; Reis, André A; Wiesener, Michael M; Zweier, Christiane C

Publication Date: 2019-05-10

Variant appearance in text: TSC2: 3099C>G; Tyr1033*

PubMed Link: 31077186

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5633.pdf

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Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Overwater, Iris E IE; Swenker, Rob R; van der Ende, Emma L EL; Hanemaayer, Kimberley Bm KB; Hoogeveen-Westerveld, Marianne M; van Eeghen, Agnies M AM; Lequin, Maarten H MH; van den Ouweland, Ans Mw AM; Moll, Henriëtte A HA; Nellist, Mark M; de Wit, Marie-Claire Y MY

Publication Date: 2016-12

Variant appearance in text: TSC2: 3099C>G; Y1033*

PubMed Link: 27406250

Variant Present in the following documents:

• Main text

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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Bmc Medical Genetics

Nellist, Mark M; Brouwer, Rutger W W RW; Kockx, Christel E M CE; van Veghel-Plandsoen, Monique M; Withagen-Hermans, Caroline C; Prins-Bakker, Lida L; Hoogeveen-Westerveld, Marianne M; Mrsic, Alan A; van den Berg, Mike M P MM; Koopmans, Anna E AE; de Wit, Marie-Claire MC; Jansen, Floor E FE; Maat-Kievit, Anneke J A AJ; van den Ouweland, Ans A; Halley, Dicky D; de Klein, Annelies A; van IJcken, Wilfred F J WF

Publication Date: 2015-02-25

Variant appearance in text: TSC2: 3099C>G; rs45464800

PubMed Link: 25927202

Variant Present in the following documents:

• Main text
• 12881_2015_Article_155.pdf

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