cdg-i

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Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich, Nastassja;Dimitrov, Bianca;Geiger, Virginia;Zielonka, Matthias;Hutter, Anna-Marlen;Beed...

2019 human mutation DOI: 10.1002/humu.23764 246 views

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human mutation

ISSN: 1098-1004 607 views

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aagrp alg3 congenital disorders of glycosylation hybrid protein mannosyltransferase