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Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Non-Synonymous Single Nucleotide Variants in Type 1 and 2 Long QT Syndrome
BACKGROUND: Hundreds of non-synonymous single nucleotide variants (nsSNVs) have been identified in the two most common LQTS-susceptibility genes (KCNQ1 and KCNH2). Unfortunately, a ~3% background rate of rare KCNQ1 and KCNH2 nsSNVs amongst healthy individuals complicates the ability to distinguish r...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2012
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3705705/ https://ncbi.nlm.nih.gov/pubmed/22949429 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.112.963785 |
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