Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study
Objectives To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance re...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2025-01-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/15/1/e092209.full |
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