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: 4762C>T; Gln1588*

PubMed Link: 33800913

Variant Present in the following documents:

• Main text
• genes-12-00376.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: 4762C>T; Q1588*

PubMed Link: 27494029

Variant Present in the following documents:

• Main text
• pgen.1006242.pdf

View BVdb publication page