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
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author Wallerstein, Violet I.
Wallerstein, Robert
author_facet Wallerstein, Violet I.
Wallerstein, Robert
author_sort Wallerstein, Violet I.
collection PubMed
description 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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spelling pubmed-52534992017-02-05 Further Evidence That the CFTR Variant c.2620-6T>C Is Benign Wallerstein, Violet I. Wallerstein, Robert Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2017 2017-01-09 /pmc/articles/PMC5253499/ /pubmed/28163942 http://dx.doi.org/10.1155/2017/7281023 Text en Copyright © 2017 V. I. Wallerstein and R. Wallerstein. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wallerstein, Violet I.
Wallerstein, Robert
Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title_full Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title_fullStr Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title_full_unstemmed Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title_short Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
title_sort further evidence that the cftr variant c.2620-6t>c is benign
topic Case Report
url 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
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