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Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
The c.2620-6T>C variant in the CFTR gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation. This patient provides additional evidence that this is a benign polymorph...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi Publishing Corporation
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253499/ https://www.ncbi.nlm.nih.gov/pubmed/28163942 http://dx.doi.org/10.1155/2017/7281023 |