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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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Foilsithe in:Pediatr Neurol
Main Authors: Ritter, David M., Horn, Paul S., Holland, Katherine D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2021
Ábhair:
Rochtain Ar Líne: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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