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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Counseling and DSG2[original query]
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jan 7 (1): 22-9.
Bauce Barbara, Nava Andrea, Beffagna Giorgia, Basso Cristina, Lorenzon Alessandra, Smaniotto Gessica, De Bortoli Marzia, Rigato Ilaria, Mazzotti Elisa, Steriotis Alexandros, Marra Martina Perazzolo, Towbin Jeffry A, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessand
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
International journal of cardiology 2018 11 274 263-270.
Chen Liang, Rao Man, Chen Xiao, Chen Kai, Ren Jie, Zhang Ningning, Zhao Qian, Yu Wenhua, Yuan Bin, Song Jiangpi
A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations.
Forensic science international 2019 Jun 301 382-387.
Zou Yan, Zhang Qing, Zhang Jianhua, Chen Xuekun, Zhou Wei, Yang Zhenzhen, Yang Qi, Yu Huan, Li Lijuan, He Yan, Li Chengtao, Zhang Suhua, Zhu Shaohua, Luo Bin, Gao Yuzh
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
Human genome variation 2022 8 9 (1): 28.
Murakami Haruka, Tanimoto Yoko, Tanimoto Kojiro, Inoue Satomi, Ishikawa Taisuke, Makita Naomasa, Yamazawa Kazu
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