E. de Franco
AuthID: R-00J-YPF
1
TITLE: Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
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