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: PKD1: 1568C>G; Ser523Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Bitarafan, Fatemeh F; Garshasbi, Masoud M

Publication Date: 2019

Variant appearance in text: PKD1: 1568C>G; Ser523Ter

PubMed Link: 31160911

Variant Present in the following documents:

• Main text
• JRMS-24-44.pdf

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