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...

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Detalles Bibliográficos
Autores principales: Wallerstein, Violet I., Wallerstein, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Case Report
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
Descripción
Sumario: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 polymorphism.

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