Publications:

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: APC: 3163_3164delAT; Ile1055AsnfsX4

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research

Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY

Publication Date: 2019

Variant appearance in text: APC: 3164_3165del; I1055Nfs*4

PubMed Link: 31118792

Variant Present in the following documents:

• Main text
• cmar-11-3721.pdf

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 3164_3165delTA; Ile1055fs

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Bmc Medicine

Kanter-Smoler, Gunilla G; Fritzell, Kaisa K; Rohlin, Anna A; Engwall, Yvonne Y; Hallberg, Birgitta B; Bergman, Annika A; Meuller, Johan J; Grönberg, Henrik H; Karlsson, Per P; Björk, Jan J; Nordling, Margareta M

Publication Date: 2008-04-24

Variant appearance in text: N/A

PubMed Link: 18433509

Variant Present in the following documents:

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