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Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

机译：旁观者眼中是变体致病性吗？一种原因突然心脏骤态的案例突出了历史稀有变异素质在SCN5A罕见的变异裁决中的潜在危险作用

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Marissa J. Stutzman; Dan Ye; David J. Tester; John R. Giudicessi; Michael J. Ackerman;
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1. Gene Sequencing to Identify Rare Pathogenic Variants Conferring Increased Risk of Adult-Onset Sudden Cardiac Death [J] . Khera Amit V., Mason-Suares Heather, Brockman Deanna, Circulation: An Official Journal of the American Heart Association . 2019,第25期

机译：基因测序以鉴定赋予成人发病突然心脏死亡的风险增加的罕见致病变异性
2. SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. [J] . Cheng J, Morales A, Siegfried JD, Clinical and translational science. . 2010,第6期

机译：家族性扩张型心肌病中的SCN5A罕见变体会降低钠电流峰值，具体取决于常见多态性H558R和常见剪接变体Q1077del。
3. Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population [J] . Zhang Liyong, Zhou Feng, Huang Lei, International journal of legal medicine . 2017,第1期

机译：SCN10A基因常见和罕见变种与中国汉族人群突然未解释的夜间死亡综合征
4. Gene-based evidence for burden of rare pathogenic variants in pharmacogenes and oncogens of Czech breast cancer patients [C] . Maria Kovacova, Viktor Hlavac, Veronika Brynychova, IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：基于基因的证据表明捷克乳腺癌患者的药基因和致癌基因中罕见的致病性变异负担
5. Functional Characterization of SCN5A Variants Associated with Cardiac Arrhythmias and Sudden Death [D] . Gando, Ivan . 2020

机译：心脏心律失常和猝死相关的SCN5A变体功能表征
6. Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication [O] . Marissa J. Stutzman, Dan Ye, David J. Tester, 2019

机译：在情人眼中变异致病性是吗？一例原因不明的心脏骤停事件突显了历史罕见变种概要在SCN5A罕见变种裁决中的潜在危险作用
7. Sudden Cardiac Arrest and Rare Genetic Variants in the Community [O] . Milano, Annalisa, Blom, Marieke T., Lodder, Elisabeth M., 2016

机译：社区中突然的心脏骤停和罕见的遗传变异

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication

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