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Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of LQTS, a background rate of innocuous Kv7.1 missense variants observed in healthy controls creates ambiguity in the interpretation of LQTS genetic test results. A recent study showed the probability of pathoge...
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| Publicado no: | J Cardiovasc Transl Res |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907365/ https://ncbi.nlm.nih.gov/pubmed/25854863 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12265-015-9622-8 |
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