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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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/7281023 |
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| _version_ | 1832546092288311296 |
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| author | Violet I. Wallerstein Robert Wallerstein |
| author_facet | Violet I. Wallerstein Robert Wallerstein |
| author_sort | Violet I. Wallerstein |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-da741f9c46934e65848c9ac8895a38e2 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-da741f9c46934e65848c9ac8895a38e22025-02-03T07:23:52ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/72810237281023Further Evidence That the CFTR Variant c.2620-6T>C Is BenignViolet I. Wallerstein0Robert Wallerstein1Hawai’i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USAHawai’i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USAThe 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.http://dx.doi.org/10.1155/2017/7281023 |
| spellingShingle | Violet I. Wallerstein Robert Wallerstein Further Evidence That the CFTR Variant c.2620-6T>C Is Benign Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2017/7281023 |
| work_keys_str_mv | AT violetiwallerstein furtherevidencethatthecftrvariantc26206tcisbenign AT robertwallerstein furtherevidencethatthecftrvariantc26206tcisbenign |