Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: PKD1: 6935C>T; Ala2312Val

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKD1: 6935C>T; Ala2312Val

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

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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: 6935C>T; A2312V

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports

Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2015-12-03

Variant appearance in text: PKD1: A2312V

PubMed Link: 26632257

Variant Present in the following documents:

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