Publications:

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific Reports

Cho, Yangrae Y; Lee, Chul-Ho CH; Jeong, Eun-Goo EG; Kim, Min-Ho MH; Hong, Jong Hui JH; Ko, Younhee Y; Lee, Bomnun B; Yun, Gilly G; Kim, Byong Joon BJ; Jung, Jongcheol J; Jung, Jongsun J; Lee, Jin-Sung JS

Publication Date: 2017-08-29

Variant appearance in text: TSC2: 3610G>C; Gly1204Arg

PubMed Link: 28851938

Variant Present in the following documents:

• Main text
• 41598_2017_9247_MOESM3_ESM.xls, sheet 1
• 41598_2017_Article_9247.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: G1204R

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page