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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP5C

Variant:p.R68C

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PPP5C

NM_006247.4:p.R68C

hg38:chr19:46353828 C>T

Associated Papers

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

Falsaperla R et al.

Molecular and Cellular Pediatrics, 2025

40172746 (PubMed )

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