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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: Myopia and CACNA1F[original query]
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72.
Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Genes 2021 1 12 (2): .
Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Ig
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126.
Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Journal of translational medicine 2024 1 22 (1): 75.
Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha
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