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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Rare germ-line mutations in the coding regions of the human EPHA2 gene (EPHA2) have been associated with inherited forms of pediatric cataract, whereas, frequent, non-coding, single nucleotide variants (SNVs) have been associated with age-related cataract. Here we sought to determine if germ-line EP...

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發表在:PLoS One
Main Authors: Bennett, Thomas M., M’Hamdi, Oussama, Hejtmancik, J. Fielding, Shiels, Alan
格式: Artigo
語言:Inglês
出版: Public Library of Science 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5739433/
https://ncbi.nlm.nih.gov/pubmed/29267365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0189881
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