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Type: Outros documentos
Title: A comprehensive analysis of missense mutations in scn1a in patients with dravet syndrome improves interpretation of clinically relevant variants
Author: Coelho Gonsales, M.
Montenegro, M. A.
Guerreiro, M. M.
Coan, A. C.
Paiva Quast, M.
Carvalho, S. B.
Lopes-Cendes, I.
Abstract: Interpreting the clinical significance of genetic variants found in molecular tests can be challenging, particularly for variants of unknown significance such as missense mutations. In order to access the rate of success in the classification of missense
Subject: Epilepsia
Country: Estados Unidos
Editor: Wiley
Rights: Fechado
Identifier DOI: 10.1111/epi.13944
Date Issue: 2017
Appears in Collections:FCM - Artigos e Outros Documentos

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