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: 12406A>G; Arg4136Gly

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.

Human Molecular Genetics

Parnell, Stephen C SC; Magenheimer, Brenda S BS; Maser, Robin L RL; Pavlov, Tengis S TS; Havens, Mallory A MA; Hastings, Michelle L ML; Jackson, Stephen F SF; Ward, Christopher J CJ; Peterson, Kenneth R KR; Staruschenko, Alexander A; Calvet, James P JP

Publication Date: 2018-10-01

Variant appearance in text: PKD1: R4136G

PubMed Link: 29931260

Variant Present in the following documents:

• Main text
• ddy223.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PKD1: R4136G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Polycystin-1 regulates STAT activity by a dual mechanism.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Talbot, Jeffrey J JJ; Shillingford, Jonathan M JM; Vasanth, Shivakumar S; Doerr, Nicholas N; Mukherjee, Sambuddho S; Kinter, Mike T MT; Watnick, Terry T; Weimbs, Thomas T

Publication Date: 2011-05-10

Variant appearance in text: PKD1: R4136G

PubMed Link: 21518865

Variant Present in the following documents:

• Main text

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