Publications:

Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

Molecular Genetics & Genomic Medicine

Dong, Kexian K; Liu, Xiaogang X; Jia, Xueyuan X; Miao, Huanhuan H; Ji, Wei W; Wu, Jie J; Huang, Yun Y; Xu, Lidan L; Zhang, Xuelong X; Su, Hui H; Ji, Guohua G; Liu, Peng P; Guan, Rongwei R; Bai, Jing J; Fu, Songbin S; Zhou, Xianli X; Sun, Wenjing W

Publication Date: 2020-11

Variant appearance in text: PKD1: 9884A>G; N3295S

PubMed Link: 32970388

Variant Present in the following documents:

• Main text
• MGG3-8-e1467.pdf

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Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: 9884A>G; Asn3295Ser

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

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System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 9884A>G; N3295S

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L

Publication Date: 2016-03

Variant appearance in text: PKD1: 9884A>G; Asn3295Ser

PubMed Link: 26139440

Variant Present in the following documents:

• Main text

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Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S

Publication Date: 2011-12-20

Variant appearance in text: PKD1: 9884A>G; Asn3295Ser

PubMed Link: 22185115

Variant Present in the following documents:

• Main text
• 1471-2350-12-164.pdf

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