Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
Abstract Autosomal recessive diseases (ARD) are typically caused by a limited number of mutations whose identification is challenged by their low prevalence. Our purpose was to develop a novel approach allowing an efficient search for mutations causing ARD and evaluation of their pathogenicity witho...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2017
|
| Subjects: | |
| Online Access: | https://doaj.org/article/8bd53056b97f4413bd8fabb621fa592d |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|