Associated Papers
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
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
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Endo Y et al.
Neurology. Genetics, 2015
Select a paper to view details