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Structure-function relationships of the disease-linked A218T oxytocin receptor variant

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Meyer, Magdalena ; Jurek, Benjamin ; Alfonso-Prieto, Mercedes ; Ribeiro, Rui ; Milenkovic, Vladimir M. ; Winter, Julia ; Hoffmann, Petra ; Wetzel, Christian H. ; Giorgetti, Alejandro ; Carloni, Paolo ; Neumann, Inga D.
License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 11 Jan 2022 05:48

This publication is part of the DEAL contract with Springer.


Various single nucleotide polymorphisms (SNPs) in the oxytocin receptor (OXTR) gene have been associated with behavioral traits, autism spectrum disorder (ASD) and other diseases. The non-synonymous SNP rs4686302 results in the OXTR variant A218T and has been linked to core characteristics of ASD, trait empathy and preterm birth. However, the molecular and intracellular mechanisms underlying ...


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