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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585430/
https://www.ncbi.nlm.nih.gov/pubmed/33097703
http://dx.doi.org/10.1038/s41467-020-17315-0

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