Associated Papers
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
Nicastro M et al.
American Journal of Human Genetics, 2025
40409267 (PubMed )
Supplement: mmc4.pdf
ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12-ATG5-ATG16L1 complex assembly and autophagy.
Wible DJ et al.
Cell Discovery, 2019
31636955 (PubMed )
Supplement: 41421_2019_110_MOESM1_ESM.pdf
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