Publications:

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Scientific Reports

Ye, Yicong Y; Zeng, Yong Y

Publication Date: 2019-03-14

Variant appearance in text: TSC2: F143L

PubMed Link: 30872599

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38898.pdf

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: F143L

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics

Napolioni, Valerio V; Curatolo, Paolo P

Publication Date: 2008-11

Variant appearance in text: TSC2: F143L

PubMed Link: 19506736

Variant Present in the following documents:

• Main text

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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Bmc Medical Genetics

Nellist, Mark M; Sancak, Ozgür O; Goedbloed, Miriam M; Adriaans, Alwin A; Wessels, Marja M; Maat-Kievit, Anneke A; Baars, Marieke M; Dommering, Charlotte C; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2008-02-26

Variant appearance in text: TSC2: F143L

PubMed Link: 18302728

Variant Present in the following documents:

• Main text
• 1471-2350-9-10.pdf

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