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CHARGE syndrome and related disorders

Subjects: Genetic Markers; ARID1A; KABUKI SYNDROMES

  • Source: Human Molecular Genetics, 30(23), 2215-2224. Oxford University Press

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Machine learning random forest for predicting oncosomatic variant NGS analysis

Subjects: Cancer therapy; RNA splicing; Computer science

  • Source: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)Scientific ReportsScientific Reports, 2021, 11 (1), pp.21820. ⟨10.1038/s41598-021-01253-y⟩Scientific Reports, Nature Publishing

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Determinants of Lung Fissure Completeness

Subjects: Adult; Genetic Markers; Male

  • Source: American Journal of Respiratory and Critical Care Medicine, 204(7), 807-816. AMER THORACIC SOCAmerican Journal of Respiratory and Critical Care Medicine

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A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease

Subjects: 0301 basic medicine; Nonsynonymous substitution; Pulmonary and Respiratory Medicine

  • Source: Am J Physiol Lung Cell Mol PhysiolAMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGYAmerican Journal of Physiology-Lung Cellular and Molecular Physiology, 321(1),

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