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PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders

Allan Bayat, Sumaiya Iqbal, Kim Borredy, Jeanne Amiel, Christiane Zweier, Giulia Barcia, Cornelia Kraus, Heike Weyhreter, Alexander G. Bassuk, Maya Chopra, Guido Rubboli, Rikke S. Møller

2021European Journal of Human Genetics14 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationBiologyPhenotypeGeneticsFrameshift mutationLoss functionGeneNonsenseNeurodevelopmental disorderWnt/β-catenin signaling in development and cancerGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases
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