Publications:

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Genetics And Molecular Biology

Wang, Wenda W; Zhao, Yang Y; Wang, Xu X; Wang, Zhan Z; Cai, Yi Y; Li, Hanzhong H; Zhang, Yushi Y

Publication Date: 2022

Variant appearance in text: TSC2: 3581G>A

PubMed Link: 35638823

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-2-e20200387.pdf

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Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.

American Journal Of Medical Genetics. Part A

Manzanilla-Romero, Héctor Hugo HH; Weis, Denisa D; Schnaiter, Simon S; Rudnik-Schöneborn, Sabine S

Publication Date: 2021-12

Variant appearance in text: TSC2: 3581G>A

PubMed Link: 34328706

Variant Present in the following documents:

• Main text
• AJMG-185-3851.pdf

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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Plos Genetics

Giannikou, Krinio K; Malinowska, Izabela A IA; Pugh, Trevor J TJ; Yan, Rachel R; Tseng, Yuen-Yi YY; Oh, Coyin C; Kim, Jaegil J; Tyburczy, Magdalena E ME; Chekaluk, Yvonne Y; Liu, Yang Y; Alesi, Nicola N; Finlay, Geraldine A GA; Wu, Chin-Lee CL; Signoretti, Sabina S; Meyerson, Matthew M; Getz, Gad G; Boehm, Jesse S JS; Henske, Elizabeth P EP; Kwiatkowski, David J DJ

Publication Date: 2016-08

Variant appearance in text: TSC2: 3581G>A

PubMed Link: 27494029

Variant Present in the following documents:

• Main text
• pgen.1006242.pdf

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