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Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful...

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書誌詳細
出版年:Int J Mol Sci
主要な著者: Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Rivolta, Ilaria, Borrelli, Valeria, Ghiroldi, Andrea, D’Imperio, Sara, Binda, Anna, Melgari, Dario, Benedetti, Sara, Mitrovic, Predrag, Anastasia, Luigi, Mecarocci, Valerio, Ćalović, Žarko, Casari, Giorgio, Pappone, Carlo
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8125150/
https://ncbi.nlm.nih.gov/pubmed/33946750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22094700
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