Articles with "frequency variant" as a keyword



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Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population

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Published in 2022 at "Cell reports"

DOI: 10.1101/2022.09.06.22279641

Abstract: High myopia (HM) is one of the leading causes of visual impairment and blindness worldwide. Here, we report a whole-exome sequencing (WES) study in 9,613 HM cases and 9,606 controls of Han Chinese ancestry to… read more here.

Keywords: ancestry; low frequency; high myopia; frequency variant ... See more keywords