Integration of validated functional evidence to support the pathogenicity of KCNH2 variants
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a clinically calibrated automated patch clamp assay...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2024-01-01
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| coleção: | Genetics in Medicine Open |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2949774424010148 |
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