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In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy

BACKGROUND: Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures (BNFS) and early infantile epileptic encephalopathy (EIEE). Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we sought to establish a model to accur...

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Bibliografiske detaljer
Udgivet i:Pediatr Neurol
Main Authors: Ritter, David M., Horn, Paul S., Holland, Katherine D.
Format: Artigo
Sprog:Inglês
Udgivet: 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8076079/
https://ncbi.nlm.nih.gov/pubmed/33784504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2021.01.006
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