Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.
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DOI: 10.1093/hmg/ddaf137
Abstract: The molecular etiology of more than half of neurodevelopment disorders remains unknown. In this study, we identified recessive variants in the TMPRSS7 gene in a fetus from a non-consanguineous Chinese family with a history of… read more here.
Keywords: variants tmprss7; neurodevelopmental disorder; function; loss function ... See more keywords