Article

A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder

2019-12-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Diagnostic yield in patients with autism spectrum disorder (ASD) has improved over the last years, thanks to the introduction of whole genome arrays and next generation sequencing, but etiology is still unknown for the majority of cases. Among distinct cellular pathways, evidence implicating dysregulation of cellular calcium homeostasis in ASD pathogenesis has bee...

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Literature Corpus work: 494f618b-b5ed-544b-8dcd-a4e80dbe3f11
DOI: 10.21203/rs.2.18548/v1

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