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Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise

BACKGROUND: Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance are being identified in children with unclear diagnostic value. Variants found in genes associated with heritable channelopathies, such as long QT syndrome (LQTS), ar...

詳細記述

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書誌詳細
出版年:Heart Rhythm
主要な著者: Landstrom, Andrew P., Fernandez, Ernesto, Rosenfeld, Jill A., Yang, Yaping, Dailey-Schwartz, Andrew L., Miyake, Christina Y., Allen, Hugh D., Penny, Daniel J., Kim, Jeffrey J.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6026069/
https://ncbi.nlm.nih.gov/pubmed/29501670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2018.02.031
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