Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
A novel nonsense mutation in SCAF4 associated with fliedner-zweier syndrome: a case report and review of the literature.
Chen Z et al.
Frontiers in Genetics, 2025
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