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...
Saved in:
Main Authors: | Violet I. Wallerstein, Robert Wallerstein |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2017-01-01
|
Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2017/7281023 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
by: Teva Brender, et al.
Published: (2015-01-01) -
Further study of $$c\bar{c}c\bar{c}$$ c c ¯ c c ¯ system within a chiral quark model
by: Yuheng Wu, et al.
Published: (2025-02-01) -
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
by: Matthew J. Garabedian, et al.
Published: (2012-01-01) -
The Role of CFTR Mutations in Asthma
by: Andrew J Sandford
Published: (2012-01-01) -
A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting
by: Robert Wallerstein, et al.
Published: (2014-01-01)