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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 - 3 (of 3 Records)

Query Trace: Eye Diseases and OPA1[original query]
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Translational vision science & technology 2020 Jul 9 (8): 11.
Li Jian-Kang, Li Wei, Gao Feng-Juan, Qu Shou-Fang, Hu Fang-Yuan, Zhang Sheng-Hai, Li Li-Li, Wang Zi-Wei, Qiu Yong, Wang Lu-Sheng, Huang Jie, Wu Ji-Hong, Chen Fa
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Molecular genetics and genomics : MGG 2021 4 296 (4): 845-862.
Xu Xingyu, Wang Panfeng, Jia Xiaoyun, Sun Wenmin, Li Shiqiang, Xiao Xueshan, Hejtmancik J Fielding, Zhang Qingjio
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.
Frontiers in neurology 2022 9 13 978532.
Seo Yuri, Kim Tae Young, Won Dongju, Shin Saeam, Choi Jong Rak, Lee Seung-Tae, Lee Byung Joo, Lim Hyun Taek, Han Sueng-Han, Han Ji
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