MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of t...

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Bibliografski detalji
Izdano u:Nat Commun
Glavni autori: Surakka, Ida, Fritsche, Lars G., Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben, Nielsen, Jonas B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn O., Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel, Stefansson, Kari, Baras, Aris, Abecasis, Goncalo R., Hveem, Kristian, Willer, Cristen J.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2020
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7585430/
https://ncbi.nlm.nih.gov/pubmed/33097703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-17315-0
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