Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A
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DOI: 10.1080/15548627.2022.2093028
Abstract: ABSTRACT Autophagy involving core machinery proteins such as ATG9A is part of a cytoprotective process whose dysregulation is associated with carcinogenesis, neurodegeneration and autoimmunity, but few examples exist of monogenic diseases to further insights into… read more here.
Keywords: compound heterozygous; heterozygous mutations; factor; mutations atg9a ... See more keywords