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Published in 2019 at "Journal of Cell Science"
DOI: 10.1242/jcs.234195
Abstract: ABSTRACT Vici syndrome is a severe and progressive multisystem disease caused by mutations in the EPG5 gene. In patient tissues and animal models, loss of EPG5 function is associated with defective autophagy caused by accumulation…
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Keywords:
rbg;
rbg rbg;
rbg complex;
function ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.936131
Abstract: Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with…
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Keywords:
long term;
research;
rbg;
term follow ... See more keywords