Publications:

Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: P1497L

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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Decoding of novel missense TSC2 gene variants using in-silico methods.

Bmc Medical Genetics

Sudarshan, Shruthi S; Kumar, Manoj M; Kaur, Punit P; Kumar, Atin A; G, Sethuraman S; Sapra, Savita S; Gulati, Sheffali S; Gupta, Neerja N; Kabra, Madhulika M; Roy Chowdhury, Madhumita M

Publication Date: 2019-10-26

Variant appearance in text: TSC2: Pro1497Leu

PubMed Link: 31655562

Variant Present in the following documents:

• Main text
• 12881_2019_Article_891.pdf

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The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 4490C>T; Pro1497Leu

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics

Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ

Publication Date: 2015-11

Variant appearance in text: TSC2: 4490C>T; P1497L

PubMed Link: 26540169

Variant Present in the following documents:

• Main text
• pgen.1005637.s005.pdf
• pgen.1005637.pdf

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2014-04-15

Variant appearance in text: TSC2: 4490C>T; P1497L

PubMed Link: 24271014

Variant Present in the following documents:

• Main text

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