Article

Insights from spatial measures of intolerance to identify pathogenic variants in developmental and epileptic encephalopathies

2021-07-29

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are a group of epilepsies with early onset and severe symptoms that sometimes lead to death. While a number of genes have been successfully implicated, it remains challenging to identify causative mutations within these genes from the background variation present in all individuals due to disease heterogeneity. Our ability to detect likely pathogenic variants has...

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Literature Corpus work: 844d920d-6611-549a-a4f3-e5da815737c2
DOI: 10.1101/2021.07.28.454182

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