Associated Papers
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
Hordijk S et al.
Blood, 2025
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.
Schütze K et al.
Blood Advances, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2020
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