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endingPage 168
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publicationName Genetics in medicine : official journal of the American College of Medical Genetics
startingPage 160
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bibliographicCitation Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genetics in Medicine. 2017 Feb;19(2):160–8. doi: 10.1038/gim.2016.75.
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date 201702
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https://pubmed.ncbi.nlm.nih.gov/27388694
https://doi.org/10.1038/gim.2016.75
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language English
source https://pubmed.ncbi.nlm.nih.gov/
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title Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
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