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Homozygous nonsense variant
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Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing with the advancement of genetic and molecular testing.
5p
vimaine2711
26-03-2021
10
1
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CHỦ ĐỀ BẠN MUỐN TÌM
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