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PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

2024-12-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Emerging evidence suggesting a possible link between the <italic>PPP5C</italic> gene (Protein Phosphatase 5 Catalytic Subunit; OMIM#600658) and developmental and epileptic encephalopathy (DEE, OMIM#308350), although the clinical significance of pathogenic variants in this gene remains unclear. <italic>PPP5C</italic> is a member of the protein phosphatase catalyti...

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Literature Corpus work
59de2b12-7fea-5a83-a690-5b1af3b81097
DOI
10.21203/rs.3.rs-5442441/v1
Open publication

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PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?DOI 10.21203/rs.3.rs-5442441/v1
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