AIMC Topic: Uniparental Disomy
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Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
American journal of medical genetics. Part A
Jun 11, 2020
Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally-inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differe...
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