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GoFCards: an integrated database and analytic platform for gain of function variants in humans.

Nucleic acids research - 6 Jan 2025

Zhao Wenjing, Tao Youfu, Xiong Jiayi, Liu Lei, Wang Zhongqing, Shao Chuhan, Shang Ling, Hu Yue, Xu Yishu, Su Yingluo, Yu Jiahui, Feng Tianyi, Xie Junyi, Xu Huijuan, Zhang Zijun, Peng Jiayi, Wu Jianbin, Zhang Yuchang, Zhu Shaobo, Xia Kun, Tang Beisha, Zhao Guihu, Li Jinchen, Li Bin

Abstract excerpt

Gain-of-function (GOF) variants, which introduce new or amplify protein functions, are essential for understanding disease mechanisms. Despite advances in genomics and functional research, identifying and analyzing pathogenic GOF variants remains challenging owing to fragmented data and database limitations, underscoring the difficulty in accessing critical genetic information. To address this challenge, we...

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PMID: 39578693
DOI: 10.1093/nar/gkae1079
PMCID: PMC11701611

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