Associated Papers
Crystal structures of β-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Yang JY et al.
Acta Crystallographica. Section D, Structural Biology, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Endo Y et al.
Neurology. Genetics, 2015
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC et al.
American Journal of Human Genetics, 2012
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