ArticleJournal of clinical laboratory analysis2026
Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.
Hyun-Woo Lee et al.PubMed ↗Full text ↗Publisher ↗
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