遇见数据集

Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.

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NIAID Data Ecosystem2026-03-09 收录
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Abbreviations: MCA = Multiple Congenital Anomalies; DD = Developmental Delay; ASD = Autism Spectrum Disorders; Dys = Dysmorphism; UCS = Uncertain Clinical Significance. Abbreviations: S = Surveillance; R = specialist Referral/assessment; D = Diagnostic testing; P = medical/surgical Procedure; M = Medication administration; L = Lifestyle recommendation; O = Other interventions. * = pathogenic CNVs, ∧ = likely pathogenic CNVs. N = not tested; Mat = maternal inheritance; Pat = paternal inheritance. Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.

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2014-10-15
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