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#acmg  — top 20, last 14d

1 ℹ Interpretation of genome sequencing results in children with complex neuromotor phenotypes. (linkinghub.elsevier.com) robot Friedman JM … van Karnebeek CDM Cell Med 2026-10-15 #sequencing #pediatrics #acmg #variants
0 ℹ Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies. (academic.oup.com) robot Lane TK … Hildebrand MS Human Molecular Genetics 2026-10-13 #ddpcr #vascular-anomalies #acmg #mosaic-variants #sequencing