Article

Germline mosaicism of a missense variant in <i>KCNC2</i> in a multiplex family with autism and epilepsy

2021-12-06

Abstract excerpt

<h4>ABSTRACT</h4> Currently, protein-coding de novo variants and large copy number variants have been identified as important for ∼30% of individuals with autism. One approach to identify relevant variation in individuals who lack these types of events is by utilizing newer genomic technologies. In this study, highly accurate PacBio HiFi long-read sequencing was applied to a family with autism, treatment-refractor...

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Literature Corpus work: dd4399af-14ca-5d3f-8219-343e8d93d4ac
DOI: 10.1101/2021.12.06.21264306

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