Article

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

2022-04-08

Abstract excerpt

Malformations of cortical development (MCD) are neurological conditions displaying focal disruption of cortical architecture and cellular organization arising during embryogenesis, largely from somatic mosaic mutations. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat epilepsy. Here, we report a genetic atlas from 317 brain r...

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Literature Corpus work: 0766a943-b0c1-568e-8607-4997d5bbe11f
DOI: 10.1101/2022.04.07.487401

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