Article

Clinical actionability of genetic findings in cerebral palsy

2023-09-11

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background and objectives</h4> Single gene mutations are increasingly recognized as causes of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for measuring their clinical impact. We evaluated Pathogenic/Likely Pathogenic (P/LP) variants identified in individuals with CP to determine how frequently genetic testing results would prompt changes in care. <h4>Metho...

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Literature Corpus work: 9c3f9657-f135-5e1c-b2b0-b05617a7f04f
DOI: 10.1101/2023.09.08.23295195

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