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Updated: Jun 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Novel human pathological mutations. Gene symbol: NR3C1. Disease: glucocorticoid receptor deficiency

Carel Pretorius1, Sarah K McMahon, Jacobus P K Ungerer

  • 1Chemical Pathology, Pathology Queensland, Brisbane, Australia. Carel_Pretorius@health.qld.gov.au

Human Genetics
|August 21, 2009
PubMed
Abstract

No abstract available in PubMed .

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