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Paper Details

Germline mutation causes a multisystem chaperonopathy.
0
2023
-, A20D, A20D-Cosmc, AKI, Cosmc, Cosmc protein, Eculizumab, GalNAc1-O-Ser/Thr/Tyr, O, O-glycan chaperonopathy, T-antigen, T-synthase, T-synthase protein, Tn-antigen, X-chromosomal, acute kidney injury, atypical hemolytic uremic syndrome, blood, c, chaperonopathies, chaperonopathy, congenital disorders of glycosylation, developmental delay, galactose, galactose-deficient, galactose-deficient IgA1, immunodeficiency, lymphoblastoid cells, multisystem, patient, patient lymphoblastoid cells, patients, short stature, thrombocytopenia, ubiquitous
Author NameAffiliation
Richard D CummingsBeth Israel Deaconess Medical Center, Harvard Medical School
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Datasets

Release 1.2