Publications:

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.

Genes

Zhou, Jia J; Yang, Ziying Z; Sun, Jun J; Liu, Lipei L; Zhou, Xinyao X; Liu, Fengxia F; Xing, Ya Y; Cui, Shuge S; Xiong, Shiyi S; Liu, Xiaoyu X; Yang, Yingjun Y; Wei, Xiuxiu X; Zou, Gang G; Wang, Zhonghua Z; Wei, Xing X; Wang, Yaoshen Y; Zhang, Yun Y; Yan, Saiying S; Wu, Fengyu F; Zeng, Fanwei F; Wang, Jian J; Duan, Tao T; Peng, Zhiyu Z; Sun, Luming L

Publication Date: 2021-03-06

Variant appearance in text: TSC2: 4258_4261delTCAG; Ser1420Glyfs*55

PubMed Link: 33800913

Variant Present in the following documents:

• Main text
• genes-12-00376.pdf

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports

Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB

Publication Date: 2020-06-18

Variant appearance in text: TSC2: 4258_4261del; Ser1420Glyfs*55

PubMed Link: 32555378

Variant Present in the following documents:

• 41598_2020_66588_MOESM1_ESM.pdf

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