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SCN5A-1795insD founder variant: a unique Dutch experience spanning 7 decades
The SCN5A-1795insD founder variant is a unique SCN5A gene variant found in a large Dutch pedigree that first came to attention in the late 1950s. To date, this is still one of the largest and best described SCN5A founder families worldwide. It was the first time that a single pathogenic variant in S...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bohn Stafleu van Loghum
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400486/ https://www.ncbi.nlm.nih.gov/pubmed/37474841 http://dx.doi.org/10.1007/s12471-023-01799-8 |