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: GCKR: 1551G>T; Trp517Cys

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.

Genes

Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Teng, Ming-Sheng MS; Wu, Semon S; Chou, Hsin-Hua HH; Ko, Yu-Lin YL

Publication Date: 2022-03-10

Variant appearance in text: GCKR: Trp517Cys; rs146285804

PubMed Link: 35328045

Variant Present in the following documents:

• Main text
• genes-13-00491.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs146285804

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1
• 12920_2021_871_MOESM1_ESM.xls, sheet 1

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Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine

Jin, Jing-Lu JL; Sun, Di D; Cao, Ye-Xuan YX; Zhang, Hui-Wen HW; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ

Publication Date: 2018-12

Variant appearance in text: GCKR: 1551G>T; W517C

PubMed Link: 30420299

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page