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Genotype-Phenotype Correlations in PMM2-CDG.
Genes (Basel). 2021 Oct 21;12(11):1658. doi: 10.3390/genes12111658.
Genes (Basel). 2021.
PMID: 34828263
Free PMC article.
PMM2-CDG caused by uniparental disomy: Case report and literature review.
Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E.
Vaes L, et al.
JIMD Rep. 2020 Apr 28;54(1):16-21. doi: 10.1002/jmd2.12122. eCollection 2020 Jul.
JIMD Rep. 2020.
PMID: 32685345
Free PMC article.
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