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Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1
Rare variants in the cardiac potassium channel K(V)7.1 (KCNQ1) and sodium channel Na(V)1.5 (SCN5A) are implicated in genetic disorders of heart rhythm, including congenital long QT and Brugada syndromes (LQTS, BrS), but also occur in reference populations. We previously reported two sets of Na(V)1.5...
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| 出版年: | Comput Struct Biotechnol J |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Research Network of Computational and Structural Biotechnology
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6383132/ https://ncbi.nlm.nih.gov/pubmed/30828412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2019.01.008 |
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