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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 - 5 (of 5 Records)

Query Trace: Counseling and TYRP1[original query]
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
The Journal of investigative dermatology 2010 Mar 130 (3): 716-24.
Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Journal of dermatological science 2011 May 62 (2): 124-7.
Wei Aihua, Yang Xiumin, Lian Shi, Li W
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Gene 2014 Jan 533 (1): 398-402.
Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Chinese medical journal 2013 Jan 126 (2): 226-30.
Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li W
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
BMC genomics 2022 4 23 (1): 332.
Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli
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