Publications:

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Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Frontiers In Pediatrics

Liao, Panli P; Xiang, Tianchao T; Li, Hongxia H; Fang, Ye Y; Fang, Xiaoyan X; Zhang, Zhiqing Z; Cao, Qi Q; Zhai, Yihui Y; Chen, Jing J; Xu, Linan L; Liu, Jialu J; Tang, Xiaoshan X; Liu, Xiaorong X; Wang, Xiaowen X; Luan, Jiangwei J; Shen, Qian Q; Chen, Lizhi L; Jiang, Xiaoyun X; Ma, Duan D; Xu, Hong H; Rao, Jia J

Publication Date: 2021

Variant appearance in text: AQP2: Leu28Pro

PubMed Link: 33996673

Variant Present in the following documents:

• Data_Sheet_1.pdf

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AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Cells

Gao, Chao C; Higgins, Paul J PJ; Zhang, Wenzheng W

Publication Date: 2020-09-26

Variant appearance in text: AQP2: L28P

PubMed Link: 32993088

Variant Present in the following documents:

• Main text
• cells-09-02172.pdf

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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Israel Journal Of Health Policy Research

Zlotogora, Joël J

Publication Date: 2019-12-16

Variant appearance in text: AQP2: 83T>C; Leu28Pro

PubMed Link: 31839005

Variant Present in the following documents:

• 13584_2019_345_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.

International Journal Of Molecular Sciences

Calvanese, Luisa L; D'Auria, Gabriella G; Vangone, Anna A; Falcigno, Lucia L; Oliva, Romina R

Publication Date: 2018-05-25

Variant appearance in text: AQP2: L28P

PubMed Link: 29799470

Variant Present in the following documents:

• Main text
• ijms-19-01577.pdf

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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: AQP2: L28P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Clinical Kidney Journal

Bichet, Daniel G DG; El Tarazi, Abdulah A; Matar, Jessica J; Lussier, Yoann Y; Arthus, Marie-Françoise MF; Lonergan, Michèle M; Bockenhauer, Detlef D; Bissonnette, Pierre P

Publication Date: 2012-06

Variant appearance in text: AQP2: L28P

PubMed Link: 26069764

Variant Present in the following documents:

• Main text
• sfs029.pdf

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Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yang, Baoxue B; Zhao, Dan D; Verkman, A S AS

Publication Date: 2009-02

Variant appearance in text: AQP2: L28P

PubMed Link: 18854434

Variant Present in the following documents:

• Main text

View BVdb publication page

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