Publications:

Multiple hypomelanotic macules in an infant cannot be ignored.

Pediatric Investigation

Zhang, Bin B; Zhang, Xin X; Xing, Huan H; Ma, Lin L

Publication Date: 2020-12

Variant appearance in text: TSC2: 3691_3694delCTGT; S1232Tfs

PubMed Link: 33376960

Variant Present in the following documents:

• Main text
• PED4-4-301.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 3691_3694delCTGT

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics

Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN

Publication Date: 2006-09-18

Variant appearance in text: TSC2: 3693_3696delGTCT

PubMed Link: 16981987

Variant Present in the following documents:

• Main text
• 1471-2350-7-72.pdf

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