A clinician-led approach boosts genetic testing among relatives of people with newly detected pathogenic variants — and could help close a gap in hereditary cancer prevention.
Diseases like cancer or neurodegeneration are known to arise from genetic misfires. But treating such complex conditions hasn ...
Purpose: Most cystic fibrosis mutation screening methods do not detect large exon deletions or duplications in the cystic fibrosis transmembrane regulator gene. We looked for such mutations in ...