Articles with "variant common" as a keyword



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Variant in a common odorant-binding protein gene is associated with bitter sensitivity in people

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Published in 2017 at "Behavioural Brain Research"

DOI: 10.1016/j.bbr.2017.05.015

Abstract: Deeper understanding of signaling mechanisms underlying bitterness perception in people is essential for designing novel and effective bitter blockers, which could enhance nutrition and compliance with orally administered bitter-tasting drugs. Here we show that variability… read more here.

Keywords: sensitivity; protein gene; binding protein; variant common ... See more keywords
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A founder UMOD variant is a common cause of hereditary nephropathy in the British population

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Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2022-108704

Abstract: Background Monogenic disorders are estimated to account for 10%–12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a… read more here.

Keywords: founder umod; umod variant; british population; variant common ... See more keywords