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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 - 6 (of 6 Records)

Query Trace: Counseling and ATP7B[original query]
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Gene 2015 Sep 569 (1): 83-7.
Guggilla Sreenivasa Rao, Senagari Jalandhar Reddy, Rao P N, Madireddi Sujat
[Mutation analysis of 35 Wilson's disease pedigrees].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Feb 33 (1): 30-3.
Zong Yanan, Kong Xiangdo
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Genetics and molecular research : GMR 2015 14 (4): 18764-70.
Zong Y N, Kong X
Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Translational neurodegeneration 2022 2 11 (1): 13.
Zhang Shijie, Yang Wenming, Li Xiang, Pei Pei, Dong Ting, Yang Yue, Zhang Ji
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647.
Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
Journal of human genetics 2023 12 .
Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping
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