Publications:

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: V690D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: V690D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Altered trafficking and stability of polycystins underlie polycystic kidney disease.

The Journal Of Clinical Investigation

Cai, Yiqiang Y; Fedeles, Sorin V SV; Dong, Ke K; Anyatonwu, Georgia G; Onoe, Tamehito T; Mitobe, Michihiro M; Gao, Jian-Dong JD; Okuhara, Dayne D; Tian, Xin X; Gallagher, Anna-Rachel AR; Tang, Zhangui Z; Xie, Xiaoli X; Lalioti, Maria D MD; Lee, Ann-Hwee AH; Ehrlich, Barbara E BE; Somlo, Stefan S

Publication Date: 2014-12

Variant appearance in text: PKD1: V690D

PubMed Link: 25365220

Variant Present in the following documents:

• Main text

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