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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders
Published 2025-01-01“…Regarding the pathogenicity of CNVs, 91 (57.96%, 91/157) were identified as pathogenic, 28 (17.83%, 28/157) as variants of uncertain clinical significance (VOUS), and 38 (24.20%, 38/157) as benign according to the American College of Medical Genetics and Genomics (ACMG).Using a specific sign-scoring scale, the proportion of pathogenic CNVs in children graded 1 point or higher (64%, 58/91) was significantly higher than that of non-pathogenic CNVs (43%, 29/66) (P < 0.05). …”
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Evolution of sub-ice-shelf channels reveals changes in ocean-driven melt in West Antarctica
Published 2024-01-01Get full text
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