通过下一代测序检测到的重复导致的早期复极综合征。 - Suppr

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超能文献

Early repolarization syndrome caused by duplication of detected by next-generation sequencing.

作者信息

Chauveau Samuel, Janin Alexandre, Till Marianne, Morel Elodie, Chevalier Philippe, Millat Gilles

机构信息

Service de Rythmologie, Hôpital Cardiologique Louis-Pradel, Bron, France.

Centre de référence des troubles du rythme héréditaires, Hôpital Cardiologique Louis-Pradel, Bron, France.

出版信息

HeartRhythm Case Rep. 2017 Oct 20;3(12):574-578. doi: 10.1016/j.hrcr.2017.08.003. eCollection 2017 Dec.

DOI:10.1016/j.hrcr.2017.08.003

PMID:29296579

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5741810/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a8cb/5741810/e775e980cbd4/gr1.jpg

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

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