Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

It has been shown previously that homozygous and compound-heterozygous variants affecting protein function in the human NLRP genes impact reproduction and/or fetal imprinting patterns. These variants represent so-called ‘maternal effect mutations’, that is, although female variant carriers are healt...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Soellner, Lukas, Begemann, Matthias, Degenhardt, Franziska, Geipel, Annegret, Eggermann, Thomas, Mangold, Elisabeth
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2017
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567160/
https://ncbi.nlm.nih.gov/pubmed/28561018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.94
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