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This patient was identified to have a presumed de novo variant of COL3A1 p.Glu1171Lys and was published in 2015 by Frank et al

More recently, disease-modifying therapies targeting amyloid- (A), including monoclonal antibodies, have demonstrated the ability to reduce amyloid burden (Monteiro et al., 2023)

Randomised, double blind, placebo-controlled study of Bronchitol (inhaled dry powder mannitol) in cystic fibrosis [abstract]

doi: 10.1186/s13027-021-00401-3

Nature 591 (7851), 645651

42 The cold stress-mediated activation of the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1)-MAPK14/p38 pathway also suppresses erastin- and RSL3-induced cell death