Publications:

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Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: PKD1: R2767C

PubMed Link: 37214819

Variant Present in the following documents:

• media-1.xlsx, sheet 3
• media-1.xlsx, sheet 2

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Intrafamilial Variability of ADPKD.

Kidney International Reports

Lanktree, Matthew B MB; Guiard, Elsa E; Li, Weili W; Akbari, Pedram P; Haghighi, Amirreza A; Iliuta, Ioan-Andrei IA; Shi, Belili B; Chen, Chen C; He, Ning N; Song, Xuewen X; Margetts, Peter J PJ; Ingram, Alistair J AJ; Khalili, Korosh K; Paterson, Andrew D AD; Pei, York Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 8299C>T; R2767C

PubMed Link: 31317121

Variant Present in the following documents:

• Main text
• main.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: R2767C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Hwang, Young-Hwan YH; Conklin, John J; Chan, Winnie W; Roslin, Nicole M NM; Liu, Jannel J; He, Ning N; Wang, Kairong K; Sundsbak, Jamie L JL; Heyer, Christina M CM; Haider, Masoom M; Paterson, Andrew D AD; Harris, Peter C PC; Pei, York Y

Publication Date: 2016-06

Variant appearance in text: PKD1: Arg2767Cys

PubMed Link: 26453610

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKD1: R2767C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis.

The Embo Journal

Araç, Demet D; Boucard, Antony A AA; Bolliger, Marc F MF; Nguyen, Jenna J; Soltis, S Michael SM; Südhof, Thomas C TC; Brunger, Axel T AT

Publication Date: 2012-03-21

Variant appearance in text: PKD1: R2767C

PubMed Link: 22333914

Variant Present in the following documents:

• emboj201226s1.pdf
• emboj201226a.pdf

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Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Molecular Genetics And Metabolism

Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ

Publication Date: 2007

Variant appearance in text: PKD1: R2767C

PubMed Link: 17574468

Variant Present in the following documents:

• Main text

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